PPA1 — 33 ClinVar variants
All ClinVar germline PPA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
33 Uncertain significance
Full PPA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPA1 p.Arg260Gly Uncertain significance Single submitter
- PPA1 p.Asn107Asp Uncertain significance Single submitter
- PPA1 p.Asn160Asp Uncertain significance Single submitter
- PPA1 p.Asn202Thr Uncertain significance Single submitter
- PPA1 p.Asp163His Uncertain significance Single submitter
- PPA1 p.Asp188Glu Uncertain significance Single submitter
- PPA1 p.Cys270Tyr Uncertain significance Single submitter
- PPA1 p.Gly115Asp Uncertain significance Single submitter
- PPA1 p.Gly150Arg Uncertain significance Single submitter
- PPA1 p.Ile147Val Uncertain significance Single submitter
- PPA1 p.Leu141Arg Uncertain significance Single submitter
- PPA1 p.Lys221Glu Uncertain significance Single submitter
- PPA1 p.Met243Thr Uncertain significance Single submitter
- PPA1 p.Pro180Arg Uncertain significance Single submitter
- PPA1 p.Pro86Leu Uncertain significance Single submitter
- PPA1 p.Ser127Gly Uncertain significance Single submitter
- PPA1 p.Thr100Ile Uncertain significance Single submitter
- PPA1 p.Thr152Ser Uncertain significance Single submitter
- PPA1 p.Thr235Met Uncertain significance Single submitter
- PPA1 p.Tyr80Cys Uncertain significance Single submitter
- PPA1 p.Val122Met Uncertain significance Single submitter
- PPA1 p.Val138Met Uncertain significance Single submitter
- PPA1 p.Val195Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PPA1 p.Asp171Gly Uncertain significance Single submitter
- PPA1 p.Cys130Ser Uncertain significance Single submitter
- PPA1 p.Glu201Lys Uncertain significance Single submitter
- PPA1 p.Glu209Lys Uncertain significance Single submitter
- PPA1 p.Ile69Val Uncertain significance Single submitter
- PPA1 p.Leu141Ile Uncertain significance Single submitter
- PPA1 p.Lys70Thr Uncertain significance Single submitter
- PPA1 p.Ser250Asn Uncertain significance Single submitter
All PPA1 variants
Uncertain significance 33
- p.Arg260Gly Single submitter ⚠
- p.Asn107Asp Single submitter ⚠
- p.Asn160Asp Single submitter ⚠
- p.Asn202Thr Single submitter ⚠
- p.Asp163His Single submitter ⚠
- p.Asp171Gly Single submitter ⚠
- p.Asp188Glu Single submitter ⚠
- p.Cys130Ser Single submitter ⚠
- p.Cys270Tyr Single submitter ⚠
- p.Glu201Lys Single submitter ⚠
- p.Glu209Lys Single submitter ⚠
- p.Gly115Asp Single submitter ⚠
- p.Gly150Arg Single submitter ⚠
- p.Ile147Val Single submitter ⚠
- p.Ile69Val Single submitter ⚠
- p.Leu141Arg Single submitter ⚠
- p.Leu141Ile Single submitter ⚠
- p.Leu141Val Single submitter
- p.Lys221Glu Single submitter ⚠
- p.Lys70Thr Single submitter ⚠
- p.Met243Thr Single submitter ⚠
- p.Pro180Arg Single submitter ⚠
- p.Pro86Leu Single submitter ⚠
- p.Ser127Gly Single submitter ⚠
- p.Ser250Asn Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Thr152Ser Single submitter ⚠
- p.Thr235Met Single submitter ⚠
- p.Thr62Ala Single submitter
- p.Tyr80Cys Single submitter ⚠
- p.Val122Met Single submitter ⚠
- p.Val138Met Single submitter ⚠
- p.Val195Ile Single submitter ⚠