DEFB4A — 7 ClinVar variants
All ClinVar germline DEFB4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
1 Benign · 6 Uncertain significance
Full DEFB4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 4
The independent predictors disagree with each other — read with care.
All DEFB4A variants
Benign 1
- p.Met16Ile Multiple submitters ⚠
Uncertain significance 6
- p.Leu11Phe Single submitter ⚠
- p.Leu32Arg Single submitter ⚠
- p.Leu7Ile Single submitter ⚠
- p.Phe14Ile Single submitter ⚠
- p.Pro17Ser Single submitter ⚠
- p.Pro40Leu Single submitter ⚠