EEF1E1 — 14 ClinVar variants
All ClinVar germline EEF1E1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Likely benign · 13 Uncertain significance
Full EEF1E1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EEF1E1 p.Ala5Thr Uncertain significance Single submitter
- EEF1E1 p.Arg144His Uncertain significance Single submitter
- EEF1E1 p.Asp90Asn Uncertain significance Single submitter
- EEF1E1 p.Gln150Leu Uncertain significance Single submitter
- EEF1E1 p.Gly19Glu Uncertain significance Single submitter
- EEF1E1 p.Ile118Thr Uncertain significance Single submitter
- EEF1E1 p.Ile47Val Uncertain significance Single submitter
- EEF1E1 p.Leu98Pro Uncertain significance Single submitter
- EEF1E1 p.Ser86Cys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All EEF1E1 variants
Likely benign 1
- p.Ile70Val Single submitter
Uncertain significance 13
- p.Ala5Thr Single submitter ⚠
- p.Ala69Ser Single submitter
- p.Arg144His Single submitter ⚠
- p.Asp90Asn Single submitter ⚠
- p.Gln150Leu Single submitter ⚠
- p.Glu67Lys Single submitter ⚠
- p.Gly19Glu Single submitter ⚠
- p.Ile118Thr Single submitter ⚠
- p.Ile47Val Single submitter ⚠
- p.Leu131Val Single submitter ⚠
- p.Leu98Pro Single submitter ⚠
- p.Ser86Cys Single submitter ⚠
- p.Tyr139Cys Single submitter ⚠