MAPKAPK2 — 40 ClinVar variants
All ClinVar germline MAPKAPK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
1 Benign · 4 Likely benign · 35 Uncertain significance
Full MAPKAPK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 lean, ClinVar uncertain 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAPKAPK2 p.Ala33Gly Uncertain significance Single submitter
- MAPKAPK2 p.Ala390Thr Uncertain significance Single submitter
- MAPKAPK2 p.Arg110Trp Uncertain significance Single submitter
- MAPKAPK2 p.Arg119Gln Uncertain significance Single submitter
- MAPKAPK2 p.Arg340Gln Uncertain significance Single submitter
- MAPKAPK2 p.Asn266Ser Uncertain significance Single submitter
- MAPKAPK2 p.Asn288Ser Uncertain significance Single submitter
- MAPKAPK2 p.Gln22His Uncertain significance Single submitter
- MAPKAPK2 p.Gln22Pro Uncertain significance Single submitter
- MAPKAPK2 p.Gln68Arg Uncertain significance Single submitter
- MAPKAPK2 p.Glu88Asp Uncertain significance Single submitter
- MAPKAPK2 p.Gly71Arg Uncertain significance Single submitter
- MAPKAPK2 p.His217Arg Uncertain significance Single submitter
- MAPKAPK2 p.His47Pro Uncertain significance Single submitter
- MAPKAPK2 p.Ile202Thr Uncertain significance Single submitter
- MAPKAPK2 p.Ile252Val Uncertain significance Single submitter
- MAPKAPK2 p.Ile54Met Uncertain significance Single submitter
- MAPKAPK2 p.Met281Val Uncertain significance Single submitter
- MAPKAPK2 p.Met320Leu Uncertain significance Single submitter
- MAPKAPK2 p.Pro287Ala Uncertain significance Single submitter
- MAPKAPK2 p.Pro31Thr Uncertain significance Single submitter
- MAPKAPK2 p.Pro32Ala Uncertain significance Single submitter
- MAPKAPK2 p.Pro32Leu Uncertain significance Single submitter
- MAPKAPK2 p.Thr195Ala Uncertain significance Single submitter
- MAPKAPK2 p.Thr311Asn Uncertain significance Single submitter
- MAPKAPK2 p.Val48Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- MAPKAPK2 p.Ala111Val Uncertain significance Single submitter
- MAPKAPK2 p.Ala378Gly Uncertain significance Single submitter
- MAPKAPK2 p.Ile271Val Uncertain significance Single submitter
- MAPKAPK2 p.Thr206Ala Uncertain significance Single submitter
- MAPKAPK2 p.Thr214Ser Uncertain significance Single submitter
All MAPKAPK2 variants
Benign 1
- p.Thr66= Multiple submitters
Likely benign 4
- p.Pro17= Multiple submitters
- p.Ala361Ser Single submitter
- p.His267= Single submitter
- p.Pro21= Single submitter
Uncertain significance 35
- p.Ala111Val Single submitter ⚠
- p.Ala33Gly Single submitter ⚠
- p.Ala378Gly Single submitter ⚠
- p.Ala390Thr Single submitter ⚠
- p.Arg110Trp Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg149Ter Single submitter neurodevelopmental disorder
- p.Arg280Gln Single submitter
- p.Arg340Gln Single submitter ⚠
- p.Arg340Trp Single submitter
- p.Asn266Ser Single submitter ⚠
- p.Asn288Ser Single submitter ⚠
- p.Asp152Gly Single submitter
- p.Gln22His Single submitter ⚠
- p.Gln22Pro Single submitter ⚠
- p.Gln68Arg Single submitter ⚠
- p.Glu88Asp Single submitter ⚠
- p.Gly71Arg Single submitter ⚠
- p.His217Arg Single submitter ⚠
- p.His47Pro Single submitter ⚠
- p.Ile202Thr Single submitter ⚠
- p.Ile252Val Single submitter ⚠
- p.Ile271Val Single submitter ⚠
- p.Ile54Met Single submitter ⚠
- p.Met281Val Single submitter ⚠
- p.Met320Leu Single submitter ⚠
- p.Pro287Ala Single submitter ⚠
- p.Pro31Thr Single submitter ⚠
- p.Pro32Ala Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Thr195Ala Single submitter ⚠
- p.Thr206Ala Single submitter ⚠
- p.Thr214Ser Single submitter ⚠
- p.Thr311Asn Single submitter ⚠
- p.Val48Ile Single submitter ⚠