ATP6V1F — 17 ClinVar variants
All ClinVar germline ATP6V1F variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
17 Uncertain significance
Full ATP6V1F gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP6V1F p.Ala115Val Uncertain significance Single submitter
- ATP6V1F p.Ala71Thr Uncertain significance Single submitter
- ATP6V1F p.Ala87Pro Uncertain significance Single submitter
- ATP6V1F p.Ala9Gly Uncertain significance Single submitter
- ATP6V1F p.Arg107Cys Uncertain significance Single submitter
- ATP6V1F p.Asp15His Uncertain significance Single submitter
- ATP6V1F p.Gln54Leu Uncertain significance Single submitter
- ATP6V1F p.Gln83Leu Uncertain significance Single submitter
- ATP6V1F p.Ile61Val Uncertain significance Single submitter
- ATP6V1F p.Ile70Val Uncertain significance Single submitter
- ATP6V1F p.Lys30Arg Uncertain significance Single submitter
- ATP6V1F p.Tyr69Asn Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All ATP6V1F variants
Uncertain significance 17
- c.159-244C>T Single submitter
- p.Ala115Val Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Ala87Pro Single submitter ⚠
- p.Ala9Gly Single submitter ⚠
- p.Arg107Cys Single submitter ⚠
- p.Asp117Gly Single submitter ⚠
- p.Asp15His Single submitter ⚠
- p.Gln54Leu Single submitter ⚠
- p.Gln83Leu Single submitter ⚠
- p.Gly111Ser Single submitter ⚠
- p.Ile61Val Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Lys30Arg Single submitter ⚠
- p.Met112Thr Single submitter ⚠
- p.Tyr69Asn Single submitter ⚠