ATP6V0E1 — 10 ClinVar variants
All ClinVar germline ATP6V0E1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
10 Uncertain significance
Full ATP6V0E1 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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V0E1 p.Ala58Ser Uncertain significance Single submitter
- ATP6V0E1 p.His79Arg Uncertain significance Single submitter
- ATP6V0E1 p.Leu23Ser Uncertain significance Single submitter
- ATP6V0E1 p.Phe19Val Uncertain significance Single submitter
- ATP6V0E1 p.Pro32Ser Uncertain significance Single submitter
- ATP6V0E1 p.Pro62His Uncertain significance Single submitter
- ATP6V0E1 p.Tyr49Cys Uncertain significance Single submitter
- ATP6V0E1 p.Tyr78Cys Uncertain significance Single submitter
- ATP6V0E1 p.Val36Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All ATP6V0E1 variants
Uncertain significance 10
- p.Ala58Ser Single submitter ⚠
- p.His79Arg Single submitter ⚠
- p.Leu10Arg Single submitter ⚠
- p.Leu23Ser Single submitter ⚠
- p.Phe19Val Single submitter ⚠
- p.Pro32Ser Single submitter ⚠
- p.Pro62His Single submitter ⚠
- p.Tyr49Cys Single submitter ⚠
- p.Tyr78Cys Single submitter ⚠
- p.Val36Ala Single submitter ⚠