DEFB115 — 19 ClinVar variants
All ClinVar germline DEFB115 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
2 Likely benign · 17 Uncertain significance
Full DEFB115 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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.
- DEFB115 p.Asp79Val Uncertain significance Single submitter
- DEFB115 p.Gly43Asp Uncertain significance Single submitter
- DEFB115 p.Lys69Glu Uncertain significance Single submitter
- DEFB115 p.Pro31Thr Uncertain significance Single submitter
- DEFB115 p.Pro3Ser Uncertain significance Single submitter
- DEFB115 p.Pro68Ser Uncertain significance Single submitter
- DEFB115 p.Ser84Thr Uncertain significance Single submitter
- DEFB115 p.Tyr87His Uncertain significance Single submitter
- DEFB115 p.Val22Phe Uncertain significance Single submitter
- DEFB115 p.Val25Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- DEFB115 p.Ala19Asp Uncertain significance Single submitter
- DEFB115 p.Gln28Arg Uncertain significance Single submitter
- DEFB115 p.Glu53Asp Uncertain significance Single submitter
- DEFB115 p.Leu15His Uncertain significance Single submitter
- DEFB115 p.Leu9Pro Uncertain significance Single submitter
- DEFB115 p.Pro68Leu Uncertain significance Single submitter
- DEFB115 p.Val25Asp Uncertain significance Single submitter
All DEFB115 variants
Likely benign 2
- p.Thr42Ile Single submitter
- p.Val67= Single submitter
Uncertain significance 17
- p.Ala19Asp Single submitter ⚠
- p.Asp79Val Single submitter ⚠
- p.Gln28Arg Single submitter ⚠
- p.Glu53Asp Single submitter ⚠
- p.Gly43Asp Single submitter ⚠
- p.Leu15His Single submitter ⚠
- p.Leu9Pro Single submitter ⚠
- p.Lys69Glu Single submitter ⚠
- p.Pro31Thr Single submitter ⚠
- p.Pro3Ser Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Ser84Thr Single submitter ⚠
- p.Tyr87His Single submitter ⚠
- p.Val22Phe Single submitter ⚠
- p.Val25Asp Single submitter ⚠
- p.Val25Ile Single submitter ⚠