ATPAF1 — 16 ClinVar variants
All ClinVar germline ATPAF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
2 Likely benign · 14 Uncertain significance
Full ATPAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATPAF1 p.Ala158Thr Uncertain significance Single submitter
- ATPAF1 p.Asp117Ala Uncertain significance Single submitter
- ATPAF1 p.Asp283Asn Uncertain significance Single submitter
- ATPAF1 p.Leu22Phe Uncertain significance Single submitter
- ATPAF1 p.Lys247Met Uncertain significance Single submitter
- ATPAF1 p.Pro56Ser Uncertain significance Single submitter
- ATPAF1 p.Ser31Arg Uncertain significance Single submitter
- ATPAF1 p.Ser31Asn Uncertain significance Single submitter
All ATPAF1 variants
Uncertain significance 14
- c.-8G>C Single submitter
- p.Ala158Thr Single submitter ⚠
- p.Arg79Cys Single submitter
- p.Asp117Ala Single submitter ⚠
- p.Asp283Asn Single submitter ⚠
- p.Glu205Val Single submitter
- p.Gly6Trp Single submitter
- p.His220Arg Single submitter
- p.Leu22Phe Single submitter ⚠
- p.Lys247Met Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Pro75Ser Single submitter
- p.Ser31Arg Single submitter ⚠
- p.Ser31Asn Single submitter ⚠