MAPK3 — 45 ClinVar variants
All ClinVar germline MAPK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Likely pathogenic · 1 Benign · 1 Benign/Likely benign · 12 Likely benign · 30 Uncertain significance
Full MAPK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAPK3 p.Ala378Asp Uncertain significance Single submitter
- MAPK3 p.Arg15Ser Uncertain significance Single submitter
- MAPK3 p.Arg242Gln Uncertain significance Single submitter
- MAPK3 p.Arg370Cys Uncertain significance Single submitter
- MAPK3 p.Asp354Ala Uncertain significance Single submitter
- MAPK3 p.Gln137Arg Uncertain significance Single submitter
- MAPK3 p.Glu331Gln Uncertain significance Single submitter
- MAPK3 p.Glu77Gln Uncertain significance Single submitter
- MAPK3 p.Ile120Thr Uncertain significance Single submitter
- MAPK3 p.Leu167Val Uncertain significance Single submitter
- MAPK3 p.Leu201Pro Uncertain significance Single submitter
- MAPK3 p.Leu304Phe Uncertain significance Single submitter
- MAPK3 p.Leu330Val Uncertain significance Single submitter
- MAPK3 p.Leu92Val Uncertain significance Single submitter
- MAPK3 p.Met275Thr Uncertain significance Single submitter
- MAPK3 p.Met55Thr Uncertain significance Single submitter
- MAPK3 p.Phe36Leu Uncertain significance Single submitter
- MAPK3 p.Pro40Leu Uncertain significance Single submitter
- MAPK3 p.Thr207Met Uncertain significance Single submitter
- MAPK3 p.Thr320Ala Uncertain significance Single submitter
- MAPK3 p.Thr337Met Uncertain significance Single submitter
- MAPK3 p.Val31Ala Uncertain significance Single submitter
- MAPK3 p.Val31Gly Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All MAPK3 variants
Likely pathogenic 1
- p.Tyr148Cys Single submitter
Benign 1
- c.1017+48G>A No assertion criteria MAPK3-related disorder
Benign/Likely benign 1
- p.Pro336= Multiple submitters
Likely benign 12
- p.Gly11= Multiple submitters
- c.171-8C>T Single submitter
- p.Ala109= Single submitter
- p.Arg15Cys Single submitter
- p.Glu323Lys Single submitter ⚠
- p.Gly221= Single submitter
- p.Leu217= Single submitter
- p.Pro328= Single submitter
- p.Ser139= Single submitter
- p.Ser301Pro Single submitter
- p.Gly23= No assertion criteria MAPK3-related disorder
- p.Ser159= No assertion criteria MAPK3-related disorder
Uncertain significance 30
- p.Ala378Asp Single submitter ⚠
- p.Arg15Ser Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg309Gln Single submitter ⚠
- p.Arg309Gly Single submitter ⚠
- p.Arg370Cys Single submitter ⚠
- p.Asp354Ala Single submitter ⚠
- p.Gln137Arg Single submitter ⚠
- p.Glu331Gln Single submitter ⚠
- p.Glu77Gln Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Leu167Val Single submitter ⚠
- p.Leu201Pro Single submitter ⚠
- p.Leu304Phe Single submitter ⚠
- p.Leu330Val Single submitter ⚠
- p.Leu92Val Single submitter ⚠
- p.Met275Thr Single submitter ⚠
- p.Met55Thr Single submitter ⚠
- p.Phe36Leu Single submitter ⚠
- p.Pro285Ser Single submitter
- p.Pro336Ser Single submitter
- p.Pro40Leu Single submitter ⚠
- p.Thr198Pro Single submitter
- p.Thr207Met Single submitter ⚠
- p.Thr320Ala Single submitter ⚠
- p.Thr337Met Single submitter ⚠
- p.Tyr42Ter Single submitter MAPK3-related disorder
- p.Val31Ala Single submitter ⚠
- p.Val31Gly Single submitter ⚠
- p.Val38Leu Single submitter ⚠