EPPIN-WFDC6 — 8 ClinVar variants
All ClinVar germline EPPIN-WFDC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
1 Likely benign · 7 Uncertain significance
Full EPPIN-WFDC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All EPPIN-WFDC6 variants
Likely benign 1
- p.Pro132Leu Single submitter
Uncertain significance 7
- p.Arg165His Single submitter
- p.Asn157Asp Single submitter
- p.Asp153Tyr Single submitter
- p.Cys160Tyr Single submitter
- p.Gln118Leu Single submitter ⚠
- p.Ile145Thr Single submitter
- p.Pro134Ser Single submitter