PPIE — 30 ClinVar variants
All ClinVar germline PPIE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
30 Uncertain significance
Full PPIE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPIE p.Ala57Val Uncertain significance Single submitter
- PPIE p.Arg137Cys Uncertain significance Single submitter
- PPIE p.Arg161Cys Uncertain significance Single submitter
- PPIE p.Arg78His Uncertain significance Single submitter
- PPIE p.Asp253Gly Uncertain significance Single submitter
- PPIE p.Gln199Arg Uncertain significance Single submitter
- PPIE p.Glu111Gln Uncertain significance Single submitter
- PPIE p.Glu125Ala Uncertain significance Single submitter
- PPIE p.Glu128Lys Uncertain significance Single submitter
- PPIE p.Gly266Arg Uncertain significance Single submitter
- PPIE p.Ile77Val Uncertain significance Single submitter
- PPIE p.Lys180Glu Uncertain significance Single submitter
- PPIE p.Lys45Glu Uncertain significance Single submitter
- PPIE p.Met144Val Uncertain significance Single submitter
- PPIE p.Met197Val Uncertain significance Single submitter
- PPIE p.Phe184Cys Uncertain significance Single submitter
- PPIE p.Phe249Leu Uncertain significance Single submitter
- PPIE p.Pro152Leu Uncertain significance Single submitter
- PPIE p.Ser138Pro Uncertain significance Single submitter
- PPIE p.Ser246Thr Uncertain significance Single submitter
- PPIE p.Val17Met Uncertain significance Single submitter
- PPIE p.Val52Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- PPIE p.Arg173His Uncertain significance Single submitter
- PPIE p.Arg276Trp Uncertain significance Single submitter
- PPIE p.Asn207Ser Uncertain significance Single submitter
- PPIE p.Asn207Thr Uncertain significance Single submitter
- PPIE p.Asp273His Uncertain significance Single submitter
- PPIE p.Cys252Tyr Uncertain significance Single submitter
- PPIE p.Phe182Leu Uncertain significance Single submitter
- PPIE p.Thr229Met Uncertain significance Single submitter
All PPIE variants
Uncertain significance 30
- p.Ala57Val Single submitter ⚠
- p.Arg137Cys Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg276Trp Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Asn207Ser Single submitter ⚠
- p.Asn207Thr Single submitter ⚠
- p.Asp253Gly Single submitter ⚠
- p.Asp273His Single submitter ⚠
- p.Cys252Tyr Single submitter ⚠
- p.Gln199Arg Single submitter ⚠
- p.Glu111Gln Single submitter ⚠
- p.Glu125Ala Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Gly266Arg Single submitter ⚠
- p.Ile77Val Single submitter ⚠
- p.Lys180Glu Single submitter ⚠
- p.Lys45Glu Single submitter ⚠
- p.Met144Val Single submitter ⚠
- p.Met197Val Single submitter ⚠
- p.Phe182Leu Single submitter ⚠
- p.Phe184Cys Single submitter ⚠
- p.Phe249Leu Single submitter ⚠
- p.Pro152Leu Single submitter ⚠
- p.Ser138Pro Single submitter ⚠
- p.Ser246Thr Single submitter ⚠
- p.Thr229Met Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val52Ile Single submitter ⚠