DEFB128 — 16 ClinVar variants
All ClinVar germline DEFB128 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
4 Likely benign · 12 Uncertain significance
Full DEFB128 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.
- DEFB128 p.Cys32Phe Uncertain significance Single submitter
- DEFB128 p.Glu13Lys Uncertain significance Single submitter
- DEFB128 p.Glu43Gln Uncertain significance Single submitter
- DEFB128 p.Gly39Arg Uncertain significance Single submitter
- DEFB128 p.His69Tyr Uncertain significance Single submitter
- DEFB128 p.His71Arg Uncertain significance Single submitter
- DEFB128 p.Lys60Glu Uncertain significance Single submitter
- DEFB128 p.Pro68Thr Uncertain significance Single submitter
- DEFB128 p.Thr29Lys Uncertain significance Single submitter
- DEFB128 p.Val14Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DEFB128 variants
Likely benign 4
- p.His71Gln Single submitter
- p.Ser72Pro Single submitter
- p.His62fs No assertion criteria DEFB128-related disorder
- p.Met1Lys No assertion criteria DEFB128-related disorder
Uncertain significance 12
- p.Cys32Phe Single submitter ⚠
- p.Glu13Lys Single submitter ⚠
- p.Glu43Gln Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Gly39Arg Single submitter ⚠
- p.His69Tyr Single submitter ⚠
- p.His71Arg Single submitter ⚠
- p.Lys60Glu Single submitter ⚠
- p.Pro68Thr Single submitter ⚠
- p.Pro86Leu Single submitter ⚠
- p.Thr29Lys Single submitter ⚠
- p.Val14Ile Single submitter ⚠