EIF4EBP1 — 12 ClinVar variants
All ClinVar germline EIF4EBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Benign · 1 Likely benign · 10 Uncertain significance
Full EIF4EBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 7
The independent predictors disagree with each other — read with care.
- EIF4EBP1 p.Gly39Ser Uncertain significance Single submitter
- EIF4EBP1 p.His97Tyr Uncertain significance Single submitter
- EIF4EBP1 p.Lys69Asn Uncertain significance Single submitter
- EIF4EBP1 p.Pro31Thr Uncertain significance Single submitter
- EIF4EBP1 p.Ser83Asn Uncertain significance Single submitter
- EIF4EBP1 p.Ser8Asn Uncertain significance Single submitter
- EIF4EBP1 p.Val21Met Uncertain significance Single submitter
All EIF4EBP1 variants
Benign 1
- p.Gln95= Multiple submitters
Likely benign 1
- p.Pro79= Single submitter
Uncertain significance 10
- p.Arg13Trp Single submitter ⚠
- p.Glu110Asp Single submitter ⚠
- p.Gly39Ser Single submitter ⚠
- p.His97Tyr Single submitter ⚠
- p.Lys69Asn Single submitter ⚠
- p.Pro31Thr Single submitter ⚠
- p.Pro89Leu Single submitter ⚠
- p.Ser83Asn Single submitter ⚠
- p.Ser8Asn Single submitter ⚠
- p.Val21Met Single submitter ⚠