ATP5F1B — 45 ClinVar variants
All ClinVar germline ATP5F1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Pathogenic · 2 Likely benign · 42 Uncertain significance
Full ATP5F1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATP5F1B p.Ala29Pro Uncertain significance Single submitter
- ATP5F1B p.Ala56Thr Uncertain significance Single submitter
- ATP5F1B p.Ala59Thr Uncertain significance Single submitter
- ATP5F1B p.Arg406His Uncertain significance Single submitter
- ATP5F1B p.Glu105Val Uncertain significance Single submitter
- ATP5F1B p.Glu448Asp Uncertain significance Single submitter
- ATP5F1B p.Glu486Asp Uncertain significance Single submitter
- ATP5F1B p.His527Arg Uncertain significance Single submitter
- ATP5F1B p.Ile256Thr Uncertain significance Single submitter
- ATP5F1B p.Ile360Val Uncertain significance Single submitter
- ATP5F1B p.Met509Val Uncertain significance Single submitter
- ATP5F1B p.Phe468Leu Uncertain significance Single submitter
- ATP5F1B p.Pro28Leu Uncertain significance Single submitter
- ATP5F1B p.Pro37Ala Uncertain significance Single submitter
- ATP5F1B p.Ser53Leu Uncertain significance Single submitter
- ATP5F1B p.Thr341Ala Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- ATP5F1B p.Ala290Ser Uncertain significance Single submitter
- ATP5F1B p.Ala39Gly Uncertain significance Single submitter
- ATP5F1B p.Ala520Ser Uncertain significance Single submitter
- ATP5F1B p.Ala9Val Uncertain significance Single submitter
- ATP5F1B p.Arg62Cys Uncertain significance Single submitter
- ATP5F1B p.Asp76Val Uncertain significance Single submitter
- ATP5F1B p.Gln493His Uncertain significance Single submitter
- ATP5F1B p.Glu525Asp Uncertain significance Single submitter
- ATP5F1B p.His501Arg Uncertain significance Single submitter
- ATP5F1B p.Ile132Val Uncertain significance Single submitter
- ATP5F1B p.Ile251Thr Uncertain significance Single submitter
- ATP5F1B p.Ile460Met Uncertain significance Single submitter
- ATP5F1B p.Leu20His Uncertain significance Single submitter
- ATP5F1B p.Leu2Phe Uncertain significance Single submitter
- ATP5F1B p.Lys351Asn Uncertain significance Single submitter
- ATP5F1B p.Pro165Arg Uncertain significance Single submitter
- ATP5F1B p.Pro410Ala Uncertain significance Single submitter
- ATP5F1B p.Pro512His Uncertain significance Single submitter
- ATP5F1B p.Pro81Leu Uncertain significance Single submitter
- ATP5F1B p.Ser106Thr Uncertain significance Single submitter
- ATP5F1B p.Ser51Phe Uncertain significance Single submitter
- ATP5F1B p.Ser529Leu Uncertain significance Single submitter
- ATP5F1B p.Thr374Ala Uncertain significance Single submitter
- ATP5F1B p.Tyr46Cys Uncertain significance Single submitter
- ATP5F1B p.Tyr499Cys Uncertain significance Single submitter
- ATP5F1B p.Tyr499His Uncertain significance Single submitter
All ATP5F1B variants
Pathogenic 1
- p.Leu335Pro Single submitter Hypermetabolism due to Defect in Mitochondrial Coupling
Likely benign 2
- p.Pro12Leu Single submitter hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
- p.Ser25Pro Single submitter
Uncertain significance 42
- p.Ala290Ser Single submitter ⚠
- p.Ala29Pro Single submitter ⚠
- p.Ala39Gly Single submitter ⚠
- p.Ala520Ser Single submitter ⚠
- p.Ala56Thr Single submitter ⚠
- p.Ala59Thr Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Asp76Val Single submitter ⚠
- p.Gln493His Single submitter ⚠
- p.Glu105Val Single submitter ⚠
- p.Glu448Asp Single submitter ⚠
- p.Glu486Asp Single submitter ⚠
- p.Glu525Asp Single submitter ⚠
- p.His501Arg Single submitter ⚠
- p.His527Arg Single submitter ⚠
- p.Ile132Val Single submitter ⚠
- p.Ile251Thr Single submitter ⚠
- p.Ile256Thr Single submitter ⚠
- p.Ile360Val Single submitter ⚠
- p.Ile460Met Single submitter ⚠
- p.Leu20His Single submitter ⚠
- p.Leu2Phe Single submitter ⚠
- p.Lys351Asn Single submitter ⚠
- p.Met509Val Single submitter ⚠
- p.Phe468Leu Single submitter ⚠
- p.Pro165Arg Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Pro37Ala Single submitter ⚠
- p.Pro410Ala Single submitter ⚠
- p.Pro512His Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Ser106Thr Single submitter ⚠
- p.Ser51Phe Single submitter ⚠
- p.Ser529Leu Single submitter ⚠
- p.Ser53Leu Single submitter ⚠
- p.Thr341Ala Single submitter ⚠
- p.Thr374Ala Single submitter ⚠
- p.Tyr46Cys Single submitter ⚠
- p.Tyr499Cys Single submitter ⚠
- p.Tyr499His Single submitter ⚠