EIF1AD — 14 ClinVar variants
All ClinVar germline EIF1AD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
14 Uncertain significance
Full EIF1AD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF1AD p.Ala126Thr Uncertain significance Single submitter
- EIF1AD p.Arg58His Uncertain significance Single submitter
- EIF1AD p.Gly77Glu Uncertain significance Single submitter
- EIF1AD p.His39Tyr Uncertain significance Single submitter
- EIF1AD p.Pro122Arg Uncertain significance Single submitter
- EIF1AD p.Pro125Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- EIF1AD p.Arg149Cys Uncertain significance Single submitter
- EIF1AD p.Arg149His Uncertain significance Single submitter
- EIF1AD p.Arg48His Uncertain significance Single submitter
- EIF1AD p.Glu104Gly Uncertain significance Single submitter
- EIF1AD p.Glu17Lys Uncertain significance Single submitter
- EIF1AD p.Glu75Lys Uncertain significance Single submitter
- EIF1AD p.Phe49Leu Uncertain significance Single submitter
- EIF1AD p.Thr120Ile Uncertain significance Single submitter
All EIF1AD variants
Uncertain significance 14
- p.Ala126Thr Single submitter ⚠
- p.Arg149Cys Single submitter ⚠
- p.Arg149His Single submitter ⚠
- p.Arg48His Single submitter ⚠
- p.Arg58His Single submitter ⚠
- p.Glu104Gly Single submitter ⚠
- p.Glu17Lys Single submitter ⚠
- p.Glu75Lys Single submitter ⚠
- p.Gly77Glu Single submitter ⚠
- p.His39Tyr Single submitter ⚠
- p.Phe49Leu Single submitter ⚠
- p.Pro122Arg Single submitter ⚠
- p.Pro125Ala Single submitter ⚠
- p.Thr120Ile Single submitter ⚠