EEF1A1 — 16 ClinVar variants
All ClinVar germline EEF1A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
3 Benign · 13 Uncertain significance
Full EEF1A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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.
- EEF1A1 p.Arg321His Uncertain significance Single submitter
- EEF1A1 p.Arg96Thr Uncertain significance Single submitter
- EEF1A1 p.Cys31Trp Uncertain significance Single submitter
- EEF1A1 p.Leu232Val Uncertain significance Single submitter
- EEF1A1 p.Pro391Thr Uncertain significance Single submitter
- EEF1A1 p.Thr142Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- EEF1A1 p.Ala448Ser Uncertain significance Single submitter
- EEF1A1 p.Asn331His Uncertain significance Single submitter
- EEF1A1 p.Asp389Asn Uncertain significance Single submitter
- EEF1A1 p.Gly151Ser Uncertain significance Single submitter
- EEF1A1 p.Ile235Val Uncertain significance Single submitter
- EEF1A1 p.Lys172Arg Uncertain significance Single submitter
- EEF1A1 p.Thr242Asn Uncertain significance Single submitter
All EEF1A1 variants
Benign 3
- c.772+9G>A Single submitter
- p.Gly305= Single submitter
- p.Pro350= Single submitter
Uncertain significance 13
- p.Ala448Ser Single submitter ⚠
- p.Arg321His Single submitter ⚠
- p.Arg96Thr Single submitter ⚠
- p.Asn331His Single submitter ⚠
- p.Asp389Asn Single submitter ⚠
- p.Cys31Trp Single submitter ⚠
- p.Gly151Ser Single submitter ⚠
- p.Ile235Val Single submitter ⚠
- p.Leu232Val Single submitter ⚠
- p.Lys172Arg Single submitter ⚠
- p.Pro391Thr Single submitter ⚠
- p.Thr142Ile Single submitter ⚠
- p.Thr242Asn Single submitter ⚠