PTAFR — 44 ClinVar variants
All ClinVar germline PTAFR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
1 Benign · 2 Likely benign · 41 Uncertain significance
Full PTAFR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PTAFR p.Ala144Val Uncertain significance Single submitter
- PTAFR p.Ala224Thr Uncertain significance Single submitter
- PTAFR p.Arg115His Uncertain significance Single submitter
- PTAFR p.Arg121Gln Uncertain significance Single submitter
- PTAFR p.Arg121Trp Uncertain significance Single submitter
- PTAFR p.Arg172Cys Uncertain significance Single submitter
- PTAFR p.Arg222His Uncertain significance Single submitter
- PTAFR p.Arg229Trp Uncertain significance Single submitter
- PTAFR p.Arg312Ser Uncertain significance Single submitter
- PTAFR p.Arg319Gln Uncertain significance Single submitter
- PTAFR p.Asn338Asp Uncertain significance Single submitter
- PTAFR p.Asn50Ser Uncertain significance Single submitter
- PTAFR p.Asp163His Uncertain significance Single submitter
- PTAFR p.Asp264His Uncertain significance Single submitter
- PTAFR p.Asp264Tyr Uncertain significance Single submitter
- PTAFR p.Glu306Lys Uncertain significance Single submitter
- PTAFR p.Gly337Ser Uncertain significance Single submitter
- PTAFR p.His176Arg Uncertain significance Single submitter
- PTAFR p.His268Leu Uncertain significance Single submitter
- PTAFR p.Lys227Arg Uncertain significance Single submitter
- PTAFR p.Lys299Asn Uncertain significance Single submitter
- PTAFR p.Lys87Arg Uncertain significance Single submitter
- PTAFR p.Phe193Ser Uncertain significance Single submitter
- PTAFR p.Phe204Leu Uncertain significance Single submitter
- PTAFR p.Pro217Leu Uncertain significance Single submitter
- PTAFR p.Pro45His Uncertain significance Single submitter
- PTAFR p.Ser138Phe Uncertain significance Single submitter
- PTAFR p.Thr236Met Uncertain significance Single submitter
- PTAFR p.Thr284Ile Uncertain significance Single submitter
- PTAFR p.Thr321Ala Uncertain significance Single submitter
- PTAFR p.Thr322Met Uncertain significance Single submitter
- PTAFR p.Trp232Arg Uncertain significance Single submitter
- PTAFR p.Trp232Leu Uncertain significance Single submitter
- PTAFR p.Val110Ile Uncertain significance Single submitter
- PTAFR p.Val192Met Uncertain significance Single submitter
- PTAFR p.Val330Leu Uncertain significance Single submitter
- PTAFR p.Val57Met Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PTAFR variants
Benign 1
- p.Ala274Thr Multiple submitters
Likely benign 2
- p.Asp163Asn Single submitter
- p.Val250Met Single submitter
Uncertain significance 41
- p.Ala144Val Single submitter ⚠
- p.Ala224Thr Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg121Gln Single submitter ⚠
- p.Arg121Trp Single submitter ⚠
- p.Arg172Cys Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg301Cys Single submitter
- p.Arg301His Single submitter ⚠
- p.Arg312Ser Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Asn338Asp Single submitter ⚠
- p.Asn50Ser Single submitter ⚠
- p.Asp163His Single submitter ⚠
- p.Asp264His Single submitter ⚠
- p.Asp264Tyr Single submitter ⚠
- p.Glu306Lys Single submitter ⚠
- p.Gly337Ser Single submitter ⚠
- p.His176Arg Single submitter ⚠
- p.His188Tyr Single submitter ⚠
- p.His268Leu Single submitter ⚠
- p.Lys227Arg Single submitter ⚠
- p.Lys299Asn Single submitter ⚠
- p.Lys87Arg Single submitter ⚠
- p.Phe193Ser Single submitter ⚠
- p.Phe204Leu Single submitter ⚠
- p.Phe267Leu Single submitter ⚠
- p.Pro217Leu Single submitter ⚠
- p.Pro45His Single submitter ⚠
- p.Ser138Phe Single submitter ⚠
- p.Thr236Met Single submitter ⚠
- p.Thr284Ile Single submitter ⚠
- p.Thr321Ala Single submitter ⚠
- p.Thr322Met Single submitter ⚠
- p.Trp232Arg Single submitter ⚠
- p.Trp232Leu Single submitter ⚠
- p.Val110Ile Single submitter ⚠
- p.Val192Met Single submitter ⚠
- p.Val330Leu Single submitter ⚠
- p.Val57Met Single submitter ⚠