DEFB123 — 6 ClinVar variants
All ClinVar germline DEFB123 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
2 Likely benign · 4 Uncertain significance
Full DEFB123 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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.
Predictors split 3
The independent predictors disagree with each other — read with care.
All DEFB123 variants
Likely benign 2
- p.Ile47Val Single submitter
- p.Lys57Arg Single submitter
Uncertain significance 4
- p.Leu11Gln Single submitter ⚠
- p.Leu17Pro Single submitter ⚠
- p.Trp64Ser Single submitter ⚠
- p.Tyr58Cys Single submitter ⚠