EIF2S1 — 18 ClinVar variants

All ClinVar germline EIF2S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →

1 Benign · 1 Likely benign · 16 Uncertain significance

Full EIF2S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 16

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 8

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 8

The independent predictors disagree with each other — read with care.

All EIF2S1 variants

Benign 1

p.Glu299= Multiple submitters

Likely benign 1

p.Ser252Asn Single submitter

Uncertain significance 16

p.Arg173Gln Single submitter ⚠
p.Asn270Ser Single submitter ⚠
p.Asp164Gly Single submitter ⚠
p.Gln253Glu Single submitter ⚠
p.Glu314Gln Single submitter ⚠
p.Glu79Asp Single submitter ⚠
p.Ile42Val Single submitter ⚠
p.Lys101Arg Single submitter ⚠
p.Lys265Arg Single submitter ⚠
p.Lys265Asn Single submitter ⚠
p.Lys312Glu Single submitter ⚠
p.Met309Ile Single submitter ⚠
p.Ser165Gly Single submitter ⚠
p.Ser5Arg Single submitter ⚠
p.Thr239Ala Single submitter ⚠
p.Val175Ile Single submitter ⚠