EIF5AL1 — 29 ClinVar variants
All ClinVar germline EIF5AL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
29 Uncertain significance
Full EIF5AL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF5AL1 p.Ala151Gly Uncertain significance Single submitter
- EIF5AL1 p.Ala16Pro Uncertain significance Single submitter
- EIF5AL1 p.Asp128Gly Uncertain significance Single submitter
- EIF5AL1 p.Glu116Asp Uncertain significance Single submitter
- EIF5AL1 p.Gly93Ala Uncertain significance Single submitter
- EIF5AL1 p.Ile61Thr Uncertain significance Single submitter
- EIF5AL1 p.Leu101Arg Uncertain significance Single submitter
- EIF5AL1 p.Thr9Arg Uncertain significance Single submitter
- EIF5AL1 p.Trp36Cys Uncertain significance Single submitter
- EIF5AL1 p.Val147Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- EIF5AL1 p.Ala148Val Uncertain significance Single submitter
- EIF5AL1 p.Ala14Thr Uncertain significance Single submitter
- EIF5AL1 p.Ala54Thr Uncertain significance Single submitter
- EIF5AL1 p.Arg113His Uncertain significance Single submitter
- EIF5AL1 p.Glu122Val Uncertain significance Single submitter
- EIF5AL1 p.Glu143Lys Uncertain significance Single submitter
- EIF5AL1 p.Glu143Val Uncertain significance Single submitter
- EIF5AL1 p.Gly106Arg Uncertain significance Single submitter
- EIF5AL1 p.Gly66Glu Uncertain significance Single submitter
- EIF5AL1 p.Ile40Val Uncertain significance Single submitter
- EIF5AL1 p.Leu101Met Uncertain significance Single submitter
- EIF5AL1 p.Lys34Arg Uncertain significance Single submitter
- EIF5AL1 p.Lys34Glu Uncertain significance Single submitter
- EIF5AL1 p.Met79Thr Uncertain significance Single submitter
- EIF5AL1 p.Thr142Ile Uncertain significance Single submitter
- EIF5AL1 p.Thr76Ala Uncertain significance Single submitter
- EIF5AL1 p.Tyr127Asp Uncertain significance Single submitter
- EIF5AL1 p.Tyr98His Uncertain significance Single submitter
All EIF5AL1 variants
Uncertain significance 29
- p.Ala148Val Single submitter ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala151Gly Single submitter ⚠
- p.Ala16Pro Single submitter ⚠
- p.Ala54Thr Single submitter ⚠
- p.Arg113His Single submitter ⚠
- p.Asp128Gly Single submitter ⚠
- p.Glu116Asp Single submitter ⚠
- p.Glu122Val Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
- p.Glu143Val Single submitter ⚠
- p.Gly106Arg Single submitter ⚠
- p.Gly66Glu Single submitter ⚠
- p.Gly93Ala Single submitter ⚠
- p.Ile40Val Single submitter ⚠
- p.Ile61Thr Single submitter ⚠
- p.Leu101Arg Single submitter ⚠
- p.Leu101Met Single submitter ⚠
- p.Leu138Gln Single submitter
- p.Lys34Arg Single submitter ⚠
- p.Lys34Glu Single submitter ⚠
- p.Met79Thr Single submitter ⚠
- p.Thr142Ile Single submitter ⚠
- p.Thr76Ala Single submitter ⚠
- p.Thr9Arg Single submitter ⚠
- p.Trp36Cys Single submitter ⚠
- p.Tyr127Asp Single submitter ⚠
- p.Tyr98His Single submitter ⚠
- p.Val147Ala Single submitter ⚠