DEFB116 — 22 ClinVar variants
All ClinVar germline DEFB116 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
22 Uncertain significance
Full DEFB116 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB116 p.Asn90Thr Uncertain significance Single submitter
- DEFB116 p.Asp86Asn Uncertain significance Single submitter
- DEFB116 p.Asp86Tyr Uncertain significance Single submitter
- DEFB116 p.Gln65Glu Uncertain significance Single submitter
- DEFB116 p.His29Gln Uncertain significance Single submitter
- DEFB116 p.Ile102Val Uncertain significance Single submitter
- DEFB116 p.Ile13Phe Uncertain significance Single submitter
- DEFB116 p.Leu8Phe Uncertain significance Single submitter
- DEFB116 p.Lys32Arg Uncertain significance Single submitter
- DEFB116 p.Lys82Asn Uncertain significance Single submitter
- DEFB116 p.Pro39Leu Uncertain significance Single submitter
- DEFB116 p.Pro62Gln Uncertain significance Single submitter
- DEFB116 p.Thr60Asn Uncertain significance Single submitter
- DEFB116 p.Thr60Ser Uncertain significance Single submitter
- DEFB116 p.Thr76Ser Uncertain significance Single submitter
- DEFB116 p.Val3Leu Uncertain significance Single submitter
- DEFB116 p.Val93Asp Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All DEFB116 variants
Uncertain significance 22
- p.Asn90Thr Single submitter ⚠
- p.Asp86Asn Single submitter ⚠
- p.Asp86Tyr Single submitter ⚠
- p.Gln65Glu Single submitter ⚠
- p.Gly45Ala Single submitter ⚠
- p.Gly45Ser Single submitter ⚠
- p.His29Gln Single submitter ⚠
- p.Ile102Val Single submitter ⚠
- p.Ile13Phe Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Lys32Arg Single submitter ⚠
- p.Lys66Arg Single submitter ⚠
- p.Lys82Asn Single submitter ⚠
- p.Phe26Leu Single submitter ⚠
- p.Pro39Leu Single submitter ⚠
- p.Pro62Gln Single submitter ⚠
- p.Ser89Pro Single submitter ⚠
- p.Thr60Asn Single submitter ⚠
- p.Thr60Ser Single submitter ⚠
- p.Thr76Ser Single submitter ⚠
- p.Val3Leu Single submitter ⚠
- p.Val93Asp Single submitter ⚠