PSMA4 — 13 ClinVar variants
All ClinVar germline PSMA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Benign · 1 Likely benign · 11 Uncertain significance
Full PSMA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 5
The independent predictors disagree with each other — read with care.
All PSMA4 variants
Benign 1
- p.Ala113= Multiple submitters
Likely benign 1
- p.Ser168= Single submitter
Uncertain significance 11
- p.Ala169Thr Single submitter ⚠
- p.Glu242Lys Single submitter ⚠
- p.Ile164Val Single submitter ⚠
- p.Ile194Val Single submitter ⚠
- p.Ile93Ser Single submitter
- p.Leu190Pro Single submitter ⚠
- p.Leu192Val Single submitter ⚠
- p.Lys231Glu Single submitter ⚠
- p.Lys239Gln Single submitter ⚠
- p.Ser168Asn Single submitter ⚠
- p.Val233Ala Single submitter ⚠