EIF2A — 65 ClinVar variants
All ClinVar germline EIF2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
2 Likely benign · 63 Uncertain significance
Full EIF2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF2A p.Ala143Val Uncertain significance Single submitter
- EIF2A p.Ala2Thr Uncertain significance Single submitter
- EIF2A p.Ala496Ser Uncertain significance Single submitter
- EIF2A p.Ala514Val Uncertain significance Single submitter
- EIF2A p.Ala555Thr Uncertain significance Single submitter
- EIF2A p.Arg11Gln Uncertain significance Single submitter
- EIF2A p.Arg144His Uncertain significance Single submitter
- EIF2A p.Arg382Gln Uncertain significance Single submitter
- EIF2A p.Asn157Ser Uncertain significance Single submitter
- EIF2A p.Asn303Ser Uncertain significance Single submitter
- EIF2A p.Asn87Ser Uncertain significance Single submitter
- EIF2A p.Asp244Glu Uncertain significance Single submitter
- EIF2A p.Gln125Arg Uncertain significance Single submitter
-
EIF2A p.Gln410Pro
Uncertain significance
Single submitter
Marinesco-Sjogren syndrome
- EIF2A p.His491Gln Uncertain significance Single submitter
- EIF2A p.Ile106Val Uncertain significance Single submitter
- EIF2A p.Ile238Val Uncertain significance Single submitter
- EIF2A p.Ile533Thr Uncertain significance Single submitter
- EIF2A p.Leu304Ser Uncertain significance Single submitter
- EIF2A p.Leu461Val Uncertain significance Single submitter
- EIF2A p.Lys115Glu Uncertain significance Single submitter
- EIF2A p.Lys399Thr Uncertain significance Single submitter
- EIF2A p.Lys86Arg Uncertain significance Single submitter
- EIF2A p.Phe218Cys Uncertain significance Single submitter
- EIF2A p.Phe218Leu Uncertain significance Single submitter
- EIF2A p.Phe218Ser Uncertain significance Single submitter
- EIF2A p.Phe310Ser Uncertain significance Single submitter
- EIF2A p.Pro296Ser Uncertain significance Single submitter
- EIF2A p.Pro316Arg Uncertain significance Single submitter
- EIF2A p.Pro6Ala Uncertain significance Single submitter
- EIF2A p.Ser136Ala Uncertain significance Single submitter
-
EIF2A p.Ser217Ile
Uncertain significance
Single submitter
dystonia 33
- EIF2A p.Ser360Cys Uncertain significance Single submitter
- EIF2A p.Ser506Arg Uncertain significance Single submitter
- EIF2A p.Thr26Lys Uncertain significance Single submitter
- EIF2A p.Thr427Ile Uncertain significance Single submitter
- EIF2A p.Thr444Ile Uncertain significance Single submitter
- EIF2A p.Thr457Ser Uncertain significance Single submitter
- EIF2A p.Thr92Met Uncertain significance Single submitter
- EIF2A p.Trp131Cys Uncertain significance Single submitter
- EIF2A p.Tyr182Ser Uncertain significance Single submitter
- EIF2A p.Tyr392Phe Uncertain significance Single submitter
- EIF2A p.Val146Phe Uncertain significance Single submitter
- EIF2A p.Val279Ile Uncertain significance Single submitter
- EIF2A p.Val330Leu Uncertain significance Single submitter
- EIF2A p.Val411Phe Uncertain significance Single submitter
- EIF2A p.Val79Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- EIF2A p.Asp418Tyr Uncertain significance Single submitter
- EIF2A p.Glu571Ala Uncertain significance Single submitter
- EIF2A p.Ile328Thr Uncertain significance Single submitter
- EIF2A p.Leu574Phe Uncertain significance Single submitter
- EIF2A p.Lys482Asn Uncertain significance Single submitter
- EIF2A p.Lys58Glu Uncertain significance Single submitter
- EIF2A p.Ser191Cys Uncertain significance Single submitter
- EIF2A p.Ser459Cys Uncertain significance Single submitter
- EIF2A p.Thr233Ala Uncertain significance Single submitter
- EIF2A p.Tyr187Cys Uncertain significance Single submitter
- EIF2A p.Val89Ala Uncertain significance Single submitter
All EIF2A variants
Likely benign 2
- p.Asn437Ser Single submitter
- p.Pro275His No assertion criteria EIF2A-related disorder
Uncertain significance 63
- p.Ala143Val Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala496Ser Single submitter ⚠
- p.Ala514Val Single submitter ⚠
- p.Ala555Thr Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg144His Single submitter ⚠
- p.Arg382Gln Single submitter ⚠
- p.Asn157Ser Single submitter ⚠
- p.Asn303Ser Single submitter ⚠
- p.Asn453Ile Single submitter
- p.Asn87Ser Single submitter ⚠
- p.Asp244Glu Single submitter ⚠
- p.Asp418Tyr Single submitter ⚠
- p.Gln125Arg Single submitter ⚠
- p.Gln410Pro Single submitter Marinesco-Sjogren syndrome ⚠
- p.Glu154Gly Single submitter
- p.Glu492Lys Single submitter
- p.Glu571Ala Single submitter ⚠
- p.His491Gln Single submitter ⚠
- p.Ile106Val Single submitter ⚠
- p.Ile238Val Single submitter ⚠
- p.Ile328Thr Single submitter ⚠
- p.Ile533Thr Single submitter ⚠
- p.Leu304Ser Single submitter ⚠
- p.Leu461Val Single submitter ⚠
- p.Leu574Phe Single submitter ⚠
- p.Lys115Glu Single submitter ⚠
- p.Lys399Thr Single submitter ⚠
- p.Lys482Asn Single submitter ⚠
- p.Lys58Glu Single submitter ⚠
- p.Lys86Arg Single submitter ⚠
- p.Phe218Cys Single submitter ⚠
- p.Phe218Leu Single submitter ⚠
- p.Phe218Ser Single submitter ⚠
- p.Phe310Ser Single submitter ⚠
- p.Pro296Ser Single submitter ⚠
- p.Pro316Arg Single submitter ⚠
- p.Pro367Leu Single submitter
- p.Pro6Ala Single submitter ⚠
- p.Ser136Ala Single submitter ⚠
- p.Ser191Cys Single submitter ⚠
- p.Ser217Ile Single submitter dystonia 33 ⚠
- p.Ser360Cys Single submitter ⚠
- p.Ser459Cys Single submitter ⚠
- p.Ser506Arg Single submitter ⚠
- p.Thr233Ala Single submitter ⚠
- p.Thr26Lys Single submitter ⚠
- p.Thr427Ile Single submitter ⚠
- p.Thr444Ile Single submitter ⚠
- p.Thr457Ser Single submitter ⚠
- p.Thr92Met Single submitter ⚠
- p.Trp131Cys Single submitter ⚠
- p.Tyr182Ser Single submitter ⚠
- p.Tyr187Cys Single submitter ⚠
- p.Tyr292Cys Single submitter
- p.Tyr392Phe Single submitter ⚠
- p.Val146Phe Single submitter ⚠
- p.Val279Ile Single submitter ⚠
- p.Val330Leu Single submitter ⚠
- p.Val411Phe Single submitter ⚠
- p.Val79Ile Single submitter ⚠
- p.Val89Ala Single submitter ⚠