MAPKAPK3 — 295 ClinVar variants
All ClinVar germline MAPKAPK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →
1 Pathogenic · 2 Conflicting · 6 Benign · 1 Benign/Likely benign · 97 Likely benign · 188 Uncertain significance
Full MAPKAPK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 141
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- MAPKAPK3 p.Gly264Ser Conflicting Single submitter
-
MAPKAPK3 p.Pro28Ala
Conflicting
Single submitter
patterned macular dystrophy 3
Predictors lean, ClinVar uncertain 100
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAPKAPK3 p.Ala181Ser Uncertain significance Multiple submitters
- MAPKAPK3 p.Arg148Gln Uncertain significance Multiple submitters
- MAPKAPK3 p.Arg282Cys Uncertain significance Multiple submitters
- MAPKAPK3 p.Arg282His Uncertain significance Multiple submitters
- MAPKAPK3 p.Arg319Gln Uncertain significance Multiple submitters
- MAPKAPK3 p.Arg343Trp Uncertain significance Multiple submitters
- MAPKAPK3 p.Asp135Asn Uncertain significance Multiple submitters
- MAPKAPK3 p.Asp347Asn Uncertain significance Multiple submitters
- MAPKAPK3 p.Glu272Gly Uncertain significance Multiple submitters
- MAPKAPK3 p.Glu323Lys Uncertain significance Multiple submitters
- MAPKAPK3 p.Gly10Glu Uncertain significance Multiple submitters
- MAPKAPK3 p.Gly11Cys Uncertain significance Multiple submitters
-
MAPKAPK3 p.Gly264Asp
Uncertain significance
Multiple submitters
MAPKAPK3-related disorder
- MAPKAPK3 p.Gly29Ala Uncertain significance Multiple submitters
- MAPKAPK3 p.Gly30Ala Uncertain significance Multiple submitters
- MAPKAPK3 p.Gly3Ser Uncertain significance Multiple submitters
- MAPKAPK3 p.Lys367Arg Uncertain significance Multiple submitters
- MAPKAPK3 p.Pro252Leu Uncertain significance Multiple submitters
- MAPKAPK3 p.Pro28Arg Uncertain significance Multiple submitters
- MAPKAPK3 p.Thr152Ala Uncertain significance Multiple submitters
- MAPKAPK3 p.Tyr243Cys Uncertain significance Multiple submitters
- MAPKAPK3 p.Val167Ile Uncertain significance Multiple submitters
- MAPKAPK3 p.Ala144Thr Uncertain significance Single submitter
- MAPKAPK3 p.Ala18Val Uncertain significance Single submitter
- MAPKAPK3 p.Ala198Val Uncertain significance Single submitter
- MAPKAPK3 p.Ala249Pro Uncertain significance Single submitter
- MAPKAPK3 p.Ala277Val Uncertain significance Single submitter
- MAPKAPK3 p.Ala27Pro Uncertain significance Single submitter
- MAPKAPK3 p.Ala38Ser Uncertain significance Single submitter
- MAPKAPK3 p.Arg292Thr Uncertain significance Single submitter
- MAPKAPK3 p.Arg31Trp Uncertain significance Single submitter
- MAPKAPK3 p.Arg32Gly Uncertain significance Single submitter
- MAPKAPK3 p.Arg360Gln Uncertain significance Single submitter
- MAPKAPK3 p.Asn161Asp Uncertain significance Single submitter
- MAPKAPK3 p.Asn267Ser Uncertain significance Single submitter
-
MAPKAPK3 p.Asn300Lys
Uncertain significance
Single submitter
patterned macular dystrophy 3
- MAPKAPK3 p.Asp102Glu Uncertain significance Single submitter
- MAPKAPK3 p.Asp135Gly Uncertain significance Single submitter
- MAPKAPK3 p.Asp288Asn Uncertain significance Single submitter
- MAPKAPK3 p.Asp347Tyr Uncertain significance Single submitter
- MAPKAPK3 p.Asp41Glu Uncertain significance Single submitter
- MAPKAPK3 p.Asp42Ala Uncertain significance Single submitter
- MAPKAPK3 p.Asp86Tyr Uncertain significance Single submitter
- MAPKAPK3 p.Cys113Tyr Uncertain significance Single submitter
- MAPKAPK3 p.Cys223Arg Uncertain significance Single submitter
- MAPKAPK3 p.Gln68Arg Uncertain significance Single submitter
- MAPKAPK3 p.Gln9Arg Uncertain significance Single submitter
- MAPKAPK3 p.Glu140Lys Uncertain significance Single submitter
- MAPKAPK3 p.Glu269Gln Uncertain significance Single submitter
- MAPKAPK3 p.Glu334Ala Uncertain significance Single submitter
- MAPKAPK3 p.Glu4Gln Uncertain significance Single submitter
- MAPKAPK3 p.Gly11Arg Uncertain significance Single submitter
- MAPKAPK3 p.Gly20Ser Uncertain significance Single submitter
- MAPKAPK3 p.Gly21Glu Uncertain significance Single submitter
- MAPKAPK3 p.Gly238Val Uncertain significance Single submitter
- MAPKAPK3 p.Gly23Asp Uncertain significance Single submitter
- MAPKAPK3 p.Gly29Arg Uncertain significance Single submitter
- MAPKAPK3 p.Gly29Glu Uncertain significance Single submitter
- MAPKAPK3 p.Gly29Trp Uncertain significance Single submitter
- MAPKAPK3 p.Gly30Val Uncertain significance Single submitter
- MAPKAPK3 p.Gly51Asp Uncertain significance Single submitter
- MAPKAPK3 p.Gly94Ser Uncertain significance Single submitter
- MAPKAPK3 p.His109Tyr Uncertain significance Single submitter
- MAPKAPK3 p.His160Tyr Uncertain significance Single submitter
- MAPKAPK3 p.His164Tyr Uncertain significance Single submitter
- MAPKAPK3 p.His327Asn Uncertain significance Single submitter
- MAPKAPK3 p.His87Tyr Uncertain significance Single submitter
- MAPKAPK3 p.Ile117Thr Uncertain significance Single submitter
- MAPKAPK3 p.Ile130Met Uncertain significance Single submitter
- MAPKAPK3 p.Ile146Val Uncertain significance Single submitter
- MAPKAPK3 p.Ile295Val Uncertain significance Single submitter
- MAPKAPK3 p.Leu173Phe Uncertain significance Single submitter
- MAPKAPK3 p.Leu283Arg Uncertain significance Single submitter
- MAPKAPK3 p.Leu315Phe Uncertain significance Single submitter
- MAPKAPK3 p.Lys179Glu Uncertain significance Single submitter
- MAPKAPK3 p.Lys255Arg Uncertain significance Single submitter
- MAPKAPK3 p.Lys350Met Uncertain significance Single submitter
- MAPKAPK3 p.Lys47Asn Uncertain significance Single submitter
- MAPKAPK3 p.Lys47Thr Uncertain significance Single submitter
- MAPKAPK3 p.Met107Ile Uncertain significance Single submitter
- MAPKAPK3 p.Met107Val Uncertain significance Single submitter
- MAPKAPK3 p.Met118Val Uncertain significance Single submitter
- MAPKAPK3 p.Met232Arg Uncertain significance Single submitter
- MAPKAPK3 p.Met232Lys Uncertain significance Single submitter
- MAPKAPK3 p.Pro12Thr Uncertain significance Single submitter
- MAPKAPK3 p.Pro169Ala Uncertain significance Single submitter
- MAPKAPK3 p.Pro19Thr Uncertain significance Single submitter
- MAPKAPK3 p.Pro202Leu Uncertain significance Single submitter
- MAPKAPK3 p.Pro252Ser Uncertain significance Single submitter
- MAPKAPK3 p.Pro28Leu Uncertain significance Single submitter
- MAPKAPK3 p.Pro311Leu Uncertain significance Single submitter
- MAPKAPK3 p.Ser159Asn Uncertain significance Single submitter
- MAPKAPK3 p.Ser176Thr Uncertain significance Single submitter
- MAPKAPK3 p.Thr186Ile Uncertain significance Single submitter
- MAPKAPK3 p.Thr290Ala Uncertain significance Single submitter
- MAPKAPK3 p.Thr317Met Uncertain significance Single submitter
- MAPKAPK3 p.Thr66Ser Uncertain significance Single submitter
- MAPKAPK3 p.Val331Ile Uncertain significance Single submitter
- MAPKAPK3 p.Val58Ala Uncertain significance Single submitter
-
MAPKAPK3 p.Lys80Thr
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 39
The independent predictors disagree with each other — read with care.
- MAPKAPK3 p.Arg112His Uncertain significance Multiple submitters
- MAPKAPK3 p.Arg148Trp Uncertain significance Multiple submitters
- MAPKAPK3 p.Glu275Gly Uncertain significance Multiple submitters
- MAPKAPK3 p.Ile150Thr Uncertain significance Multiple submitters
- MAPKAPK3 p.Leu75Pro Uncertain significance Multiple submitters
- MAPKAPK3 p.Thr246Met Uncertain significance Multiple submitters
- MAPKAPK3 p.Ala181Val Uncertain significance Single submitter
- MAPKAPK3 p.Ala338Thr Uncertain significance Single submitter
- MAPKAPK3 p.Ala338Val Uncertain significance Single submitter
- MAPKAPK3 p.Ala91Thr Uncertain significance Single submitter
- MAPKAPK3 p.Arg112Cys Uncertain significance Single submitter
- MAPKAPK3 p.Arg133His Uncertain significance Single submitter
- MAPKAPK3 p.Arg343Gln Uncertain significance Single submitter
- MAPKAPK3 p.Arg360Trp Uncertain significance Single submitter
- MAPKAPK3 p.Arg82Gln Uncertain significance Single submitter
- MAPKAPK3 p.Asn55Lys Uncertain significance Single submitter
- MAPKAPK3 p.Asp347His Uncertain significance Single submitter
- MAPKAPK3 p.Gln382Arg Uncertain significance Single submitter
- MAPKAPK3 p.Glu132Lys Uncertain significance Single submitter
- MAPKAPK3 p.Glu272Lys Uncertain significance Single submitter
- MAPKAPK3 p.Gly93Asp Uncertain significance Single submitter
- MAPKAPK3 p.His109Pro Uncertain significance Single submitter
- MAPKAPK3 p.His301Gln Uncertain significance Single submitter
- MAPKAPK3 p.Lys111Asn Uncertain significance Single submitter
- MAPKAPK3 p.Lys111Thr Uncertain significance Single submitter
- MAPKAPK3 p.Lys177Glu Uncertain significance Single submitter
- MAPKAPK3 p.Lys325Glu Uncertain significance Single submitter
- MAPKAPK3 p.Lys35Gln Uncertain significance Single submitter
- MAPKAPK3 p.Lys35Met Uncertain significance Single submitter
- MAPKAPK3 p.Met225Ile Uncertain significance Single submitter
- MAPKAPK3 p.Pro268Ala Uncertain significance Single submitter
- MAPKAPK3 p.Pro302Ala Uncertain significance Single submitter
- MAPKAPK3 p.Pro311Ser Uncertain significance Single submitter
- MAPKAPK3 p.Pro34Ser Uncertain significance Single submitter
- MAPKAPK3 p.Ser128Gly Uncertain significance Single submitter
- MAPKAPK3 p.Ser337Cys Uncertain significance Single submitter
- MAPKAPK3 p.Tyr76Cys Uncertain significance Single submitter
- MAPKAPK3 p.Val230Ile Uncertain significance Single submitter
- MAPKAPK3 p.Val344Ile Uncertain significance Single submitter
All MAPKAPK3 variants
Pathogenic 1
- p.Leu173Pro No assertion criteria patterned macular dystrophy 3
Conflicting classifications of pathogenicity 2
- p.Gly264Ser Single submitter ⚠
- p.Pro28Ala Single submitter patterned macular dystrophy 3 ⚠
Benign 6
- c.704+20C>A Single submitter
- c.830-4del Single submitter
- c.830-4dup Single submitter
- c.830-5C>G Single submitter
- p.Gly25= Single submitter
- p.Leu157= Single submitter
Benign/Likely benign 1
- p.Tyr263= Multiple submitters
Likely benign 97
- p.Ala338= Multiple submitters
- c.219+10C>A Single submitter
- c.219+10C>G Single submitter
- c.219+8A>G Single submitter
- c.220-9C>A Single submitter
- c.424+10T>C Single submitter
- c.424+9A>G Single submitter
- c.425-14C>T Single submitter
- c.425-18C>T Single submitter
- c.425-20C>T Single submitter
- c.425-21CCT[2] Single submitter
- c.504+12G>C Single submitter
- c.504+19G>C Single submitter
- c.504+8T>C Single submitter
- c.505-10T>C Single submitter
- c.505-13C>T Single submitter
- c.628+11C>T Single submitter
- c.628+12G>A Single submitter
- c.628+15C>T Single submitter
- c.628+20G>A Single submitter
- c.629-16C>A Single submitter
- c.629-17T>C Single submitter
- c.829+11C>T Single submitter
- c.829+20C>T Single submitter
- c.830-20C>T Single submitter
- c.830-6C>T Single submitter
- c.830-8C>T Single submitter
- c.915+13T>A Single submitter
- c.915+13T>C Single submitter
- c.915+14C>G Single submitter
- c.915+19C>G Single submitter
- c.915+7C>T Single submitter
- c.916-16G>A Single submitter
- c.916-16G>T Single submitter
- c.916-17C>T Single submitter
- c.996+10C>A Single submitter
- c.997-14C>A Single submitter
- c.997-14C>T Single submitter
- c.997-17A>G Single submitter
- c.997-6C>T Single submitter
- p.Ala144= Single submitter
- p.Ala181= Single submitter
- p.Ala210= Single submitter
- p.Ala38= Single submitter
- p.Arg148= Single submitter
- p.Arg282= Single submitter
- p.Arg366= Single submitter
- p.Arg65Leu Single submitter
- p.Asn161= Single submitter
- p.Asn267= Single submitter
- p.Asn300= Single submitter
- p.Asn55= Single submitter
- p.Asp180= Single submitter
- p.Asp329= Single submitter
- p.Asp353= Single submitter
- p.Gln248= Single submitter
- p.Gln48= Single submitter
- p.Glu119= Single submitter
- p.Glu125= Single submitter
- p.Glu8= Single submitter
- p.Gly11= Single submitter
- p.Gly134= Single submitter
- p.Gly20= Single submitter
- p.Gly23= Single submitter
- p.Gly247= Single submitter
- p.Gly30= Single submitter
- p.Gly67= Single submitter
- p.Gly93= Single submitter
- p.His164= Single submitter
- p.His327= Single submitter
- p.Ile100= Single submitter
- p.Ile154= Single submitter
- p.Leu126= Single submitter
- p.Leu172= Single submitter
- p.Leu185= Single submitter
- p.Leu283= Single submitter
- p.Leu315= Single submitter
- p.Leu339= Single submitter
- p.Leu354= Single submitter
- p.Leu361= Single submitter
- p.Leu75= Single submitter
- p.Lys355= Single submitter
- p.Pro12= Single submitter
- p.Pro19= Single submitter
- p.Pro252= Single submitter
- p.Pro34= Single submitter
- p.Pro79= Single submitter
- p.Ser227= Single submitter
- p.Ser307= Single submitter
- p.Ser46= Single submitter
- p.Thr317= Single submitter
- p.Thr341= Single submitter
- p.Thr40= Single submitter
- p.Tyr219= Single submitter
- p.Tyr346= Single submitter
- p.Val103= Single submitter
- p.Val167= Single submitter
Uncertain significance 188
- p.Ala181Ser Multiple submitters ⚠
- p.Arg112His Multiple submitters ⚠
- p.Arg148Gln Multiple submitters ⚠
- p.Arg148Trp Multiple submitters ⚠
- p.Arg259Cys Multiple submitters
- p.Arg282Cys Multiple submitters ⚠
- p.Arg282His Multiple submitters ⚠
- p.Arg319Gln Multiple submitters ⚠
- p.Arg343Trp Multiple submitters ⚠
- p.Asp135Asn Multiple submitters ⚠
- p.Asp347Asn Multiple submitters ⚠
- p.Glu272Gly Multiple submitters ⚠
- p.Glu275Gly Multiple submitters ⚠
- p.Glu323Lys Multiple submitters ⚠
- p.Gly10Glu Multiple submitters ⚠
- p.Gly11Cys Multiple submitters ⚠
- p.Gly264Asp Multiple submitters MAPKAPK3-related disorder ⚠
- p.Gly29Ala Multiple submitters ⚠
- p.Gly30Ala Multiple submitters ⚠
- p.Gly3Ser Multiple submitters ⚠
- p.Ile150Thr Multiple submitters ⚠
- p.Leu75Pro Multiple submitters ⚠
- p.Lys367Arg Multiple submitters ⚠
- p.Pro252Leu Multiple submitters ⚠
- p.Pro28Arg Multiple submitters ⚠
- p.Thr152Ala Multiple submitters ⚠
- p.Thr246Met Multiple submitters ⚠
- p.Tyr243Cys Multiple submitters ⚠
- p.Val167Ile Multiple submitters ⚠
- c.220-11C>G Single submitter
- c.360-17A>C Single submitter
- c.360-18T>G Single submitter
- c.360-5T>C Single submitter
- c.360-9del Single submitter
- c.424+4T>A Single submitter
- c.425-6C>T Single submitter
- c.504+3G>A Single submitter
- c.504+5G>A Single submitter
- c.628+16A>G Single submitter
- c.628+4A>G Single submitter
- c.705-3C>G Single submitter
- c.705-3C>T Single submitter
- c.830-3del Single submitter
- c.915+1G>A Single submitter
- c.915+5G>A Single submitter
- c.916-3C>T Single submitter
- c.996+1G>A Single submitter
- p.Ala144Thr Single submitter ⚠
- p.Ala181Val Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala198Val Single submitter ⚠
- p.Ala249Pro Single submitter ⚠
- p.Ala277Val Single submitter ⚠
- p.Ala27Pro Single submitter ⚠
- p.Ala338Thr Single submitter ⚠
- p.Ala338Val Single submitter ⚠
- p.Ala38Ser Single submitter ⚠
- p.Ala91Thr Single submitter ⚠
- p.Arg112Cys Single submitter ⚠
- p.Arg112Phe Single submitter
- p.Arg133His Single submitter ⚠
- p.Arg259His Single submitter
- p.Arg292Thr Single submitter ⚠
- p.Arg31fs Single submitter
- p.Arg31Trp Single submitter ⚠
- p.Arg32Gly Single submitter ⚠
- p.Arg343Gln Single submitter ⚠
- p.Arg360Gln Single submitter ⚠
- p.Arg360Trp Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Arg82Trp Single submitter
- p.Asn161Asp Single submitter ⚠
- p.Asn267Ser Single submitter ⚠
- p.Asn300Lys Single submitter patterned macular dystrophy 3 ⚠
- p.Asn55Lys Single submitter ⚠
- p.Asp102Glu Single submitter ⚠
- p.Asp135Gly Single submitter ⚠
- p.Asp288Asn Single submitter ⚠
- p.Asp2fs Single submitter
- p.Asp347His Single submitter ⚠
- p.Asp347Tyr Single submitter ⚠
- p.Asp41Glu Single submitter ⚠
- p.Asp42Ala Single submitter ⚠
- p.Asp86Tyr Single submitter ⚠
- p.Cys113Tyr Single submitter ⚠
- p.Cys223Arg Single submitter ⚠
- p.Gln369Ter Single submitter
- p.Gln382Arg Single submitter ⚠
- p.Gln382Ter Single submitter
- p.Gln48Pro Single submitter
- p.Gln68Arg Single submitter ⚠
- p.Gln9Arg Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu269Gln Single submitter ⚠
- p.Glu272Lys Single submitter ⚠
- p.Glu334Ala Single submitter ⚠
- p.Glu4Gln Single submitter ⚠
- p.Glu84Arg Single submitter
- p.Glu8fs Single submitter
- p.Gly110= Single submitter
- p.Gly11Arg Single submitter ⚠
- p.Gly151fs Single submitter
- p.Gly20Ser Single submitter ⚠
- p.Gly215fs Single submitter
- p.Gly21Glu Single submitter ⚠
- p.Gly238Val Single submitter ⚠
- p.Gly23Asp Single submitter ⚠
- p.Gly29Arg Single submitter ⚠
- p.Gly29Glu Single submitter ⚠
- p.Gly29Trp Single submitter ⚠
- p.Gly30Val Single submitter ⚠
- p.Gly51Asp Single submitter ⚠
- p.Gly93Asp Single submitter ⚠
- p.Gly94Ser Single submitter ⚠
- p.His109Pro Single submitter ⚠
- p.His109Tyr Single submitter ⚠
- p.His160Tyr Single submitter ⚠
- p.His164Tyr Single submitter ⚠
- p.His301Gln Single submitter ⚠
- p.His327Asn Single submitter ⚠
- p.His87Tyr Single submitter ⚠
- p.Ile117Thr Single submitter ⚠
- p.Ile130Met Single submitter ⚠
- p.Ile146Val Single submitter ⚠
- p.Ile154Asn Single submitter
- p.Ile295Val Single submitter ⚠
- p.Leu115del Single submitter
- p.Leu173Phe Single submitter ⚠
- p.Leu214fs Single submitter
- p.Leu235= Single submitter
- p.Leu283Arg Single submitter ⚠
- p.Leu315Phe Single submitter ⚠
- p.Lys111Asn Single submitter ⚠
- p.Lys111Thr Single submitter ⚠
- p.Lys177Glu Single submitter ⚠
- p.Lys179Glu Single submitter ⚠
- p.Lys255Arg Single submitter ⚠
- p.Lys325Glu Single submitter ⚠
- p.Lys350Met Single submitter ⚠
- p.Lys35Gln Single submitter ⚠
- p.Lys35Met Single submitter ⚠
- p.Lys47Asn Single submitter ⚠
- p.Lys47Thr Single submitter ⚠
- p.Lys73= Single submitter
- p.Met107Ile Single submitter ⚠
- p.Met107Val Single submitter ⚠
- p.Met118Val Single submitter ⚠
- p.Met225Ile Single submitter ⚠
- p.Met232Arg Single submitter ⚠
- p.Met232Lys Single submitter ⚠
- p.Pro12Thr Single submitter ⚠
- p.Pro169Ala Single submitter ⚠
- p.Pro19Thr Single submitter ⚠
- p.Pro202Leu Single submitter ⚠
- p.Pro252Ser Single submitter ⚠
- p.Pro268Ala Single submitter ⚠
- p.Pro268Arg Single submitter
- p.Pro28Leu Single submitter ⚠
- p.Pro302Ala Single submitter ⚠
- p.Pro311Leu Single submitter ⚠
- p.Pro311Ser Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Ser128= Single submitter
- p.Ser128Gly Single submitter ⚠
- p.Ser159Asn Single submitter ⚠
- p.Ser176Thr Single submitter ⚠
- p.Ser337Cys Single submitter ⚠
- p.Ser357Cys Single submitter
- p.Ser372fs Single submitter
- p.Thr186Ala Single submitter
- p.Thr186Ile Single submitter ⚠
- p.Thr246= Single submitter
- p.Thr290Ala Single submitter ⚠
- p.Thr317Met Single submitter ⚠
- p.Thr66Ser Single submitter ⚠
- p.Trp328Ter Single submitter
- p.Trp89Ter Single submitter
- p.Tyr104Ter Single submitter
- p.Tyr346Gln Single submitter
- p.Tyr76Cys Single submitter ⚠
- p.Tyr76Ter Single submitter
- p.Val13_Pro14del Single submitter
- p.Val230Ile Single submitter ⚠
- p.Val331Ile Single submitter ⚠
- p.Val344Ile Single submitter ⚠
- p.Val58Ala Single submitter ⚠
- p.Lys80Thr No assertion criteria inherited retinal dystrophy ⚠