DEFB113 — 15 ClinVar variants
All ClinVar germline DEFB113 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
3 Likely benign · 12 Uncertain significance
Full DEFB113 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB113 p.Arg39His Uncertain significance Single submitter
- DEFB113 p.Cys42Trp Uncertain significance Single submitter
- DEFB113 p.Cys46Ser Uncertain significance Single submitter
- DEFB113 p.His80Gln Uncertain significance Single submitter
- DEFB113 p.Ile6Leu Uncertain significance Single submitter
- DEFB113 p.Leu4Ile Uncertain significance Single submitter
- DEFB113 p.Pro44Leu Uncertain significance Single submitter
- DEFB113 p.Ser77Asn Uncertain significance Single submitter
- DEFB113 p.Thr9Ile Uncertain significance Single submitter
- DEFB113 p.Val58Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DEFB113 variants
Likely benign 3
- p.Ala63Val Single submitter
- p.Asn57Asp Single submitter
- p.Pro44Thr Single submitter
Uncertain significance 12
- p.Arg39His Single submitter ⚠
- p.Cys42Trp Single submitter ⚠
- p.Cys46Ser Single submitter ⚠
- p.Cys56Phe Single submitter ⚠
- p.His80Gln Single submitter ⚠
- p.Ile6Leu Single submitter ⚠
- p.Leu4Ile Single submitter ⚠
- p.Pro44Leu Single submitter ⚠
- p.Pro70Gln Single submitter ⚠
- p.Ser77Asn Single submitter ⚠
- p.Thr9Ile Single submitter ⚠
- p.Val58Ile Single submitter ⚠