EIF5A2 — 10 ClinVar variants
All ClinVar germline EIF5A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
10 Uncertain significance
Full EIF5A2 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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF5A2 p.Arg109Cys Uncertain significance Single submitter
- EIF5A2 p.Asn128Ser Uncertain significance Single submitter
- EIF5A2 p.His57Arg Uncertain significance Single submitter
- EIF5A2 p.Ile149Val Uncertain significance Single submitter
- EIF5A2 p.Met138Ile Uncertain significance Single submitter
- EIF5A2 p.Val133Leu Uncertain significance Single submitter
- EIF5A2 p.Val41Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All EIF5A2 variants
Uncertain significance 10
- p.Arg109Cys Single submitter ⚠
- p.Arg36Gln Single submitter ⚠
- p.Asn128Ser Single submitter ⚠
- p.Glu4Lys Single submitter ⚠
- p.His57Arg Single submitter ⚠
- p.Ile149Val Single submitter ⚠
- p.Met138Ile Single submitter ⚠
- p.Met20Val Single submitter ⚠
- p.Val133Leu Single submitter ⚠
- p.Val41Met Single submitter ⚠