PDAP1 — 16 ClinVar variants
All ClinVar germline PDAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
2 Benign · 14 Uncertain significance
Full PDAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDAP1 p.Ala130Ser Uncertain significance Single submitter
- PDAP1 p.Ala144Thr Uncertain significance Single submitter
- PDAP1 p.Ala14Val Uncertain significance Single submitter
- PDAP1 p.Ala167Ser Uncertain significance Single submitter
- PDAP1 p.Asn180His Uncertain significance Single submitter
- PDAP1 p.Asp166Asn Uncertain significance Single submitter
- PDAP1 p.Asp24Asn Uncertain significance Single submitter
- PDAP1 p.Glu106Ala Uncertain significance Single submitter
- PDAP1 p.Glu152Ala Uncertain significance Single submitter
- PDAP1 p.Glu84Lys Uncertain significance Single submitter
- PDAP1 p.Lys31Arg Uncertain significance Single submitter
- PDAP1 p.Ser176Ala Uncertain significance Single submitter
- PDAP1 p.Tyr70Cys Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All PDAP1 variants
Benign 2
- c.105+9G>T Single submitter
- p.Ser178Pro Single submitter ⚠
Uncertain significance 14
- p.Ala130Ser Single submitter ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala167Ser Single submitter ⚠
- p.Asn180His Single submitter ⚠
- p.Asp166Asn Single submitter ⚠
- p.Asp24Asn Single submitter ⚠
- p.Glu106Ala Single submitter ⚠
- p.Glu152Ala Single submitter ⚠
- p.Glu84Lys Single submitter ⚠
- p.Lys31Arg Single submitter ⚠
- p.Ser176Ala Single submitter ⚠
- p.Tyr70Cys Single submitter ⚠
- p.Val96Phe Single submitter ⚠