ATP5PF — 14 ClinVar variants
All ClinVar germline ATP5PF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Likely benign · 13 Uncertain significance
Full ATP5PF 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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 7
The independent predictors disagree with each other — read with care.
- ATP5PF p.Arg14Trp Uncertain significance Single submitter
- ATP5PF p.Arg22Trp Uncertain significance Single submitter
- ATP5PF p.Arg23Ser Uncertain significance Single submitter
- ATP5PF p.Glu66Gly Uncertain significance Single submitter
- ATP5PF p.Gly83Arg Uncertain significance Single submitter
- ATP5PF p.Lys34Glu Uncertain significance Single submitter
- ATP5PF p.Pro98Ala Uncertain significance Single submitter
All ATP5PF variants
Likely benign 1
- p.Phe9Leu Single submitter
Uncertain significance 13
- p.Arg14Trp Single submitter ⚠
- p.Arg22Trp Single submitter ⚠
- p.Arg23Ser Single submitter ⚠
- p.Asp45Gly Single submitter
- p.Glu104Lys Single submitter ⚠
- p.Glu66Gly Single submitter ⚠
- p.Gly83Arg Single submitter ⚠
- p.Ile39Leu Single submitter
- p.Lys34Glu Single submitter ⚠
- p.Met1Val Single submitter
- p.Pro98Ala Single submitter ⚠
- p.Ser57Cys Single submitter ⚠
- p.Val27Ala Single submitter ⚠