DEFB114 — 18 ClinVar variants
All ClinVar germline DEFB114 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
18 Uncertain significance
Full DEFB114 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFB114 p.Ala19Asp Uncertain significance Single submitter
- DEFB114 p.Arg28His Uncertain significance Single submitter
- DEFB114 p.Arg28Leu Uncertain significance Single submitter
- DEFB114 p.Arg28Ser Uncertain significance Single submitter
- DEFB114 p.Arg32Cys Uncertain significance Single submitter
- DEFB114 p.Arg32Leu Uncertain significance Single submitter
- DEFB114 p.Arg35His Uncertain significance Single submitter
- DEFB114 p.Arg35Leu Uncertain significance Single submitter
- DEFB114 p.Arg54Thr Uncertain significance Single submitter
- DEFB114 p.Asn25Lys Uncertain significance Single submitter
- DEFB114 p.Asp39Gly Uncertain significance Single submitter
- DEFB114 p.Asp66Asn Uncertain significance Single submitter
- DEFB114 p.Phe15Ile Uncertain significance Single submitter
- DEFB114 p.Thr14Ala Uncertain significance Single submitter
- DEFB114 p.Tyr33Cys Uncertain significance Single submitter
- DEFB114 p.Tyr6His Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DEFB114 variants
Uncertain significance 18
- p.Ala19Asp Single submitter ⚠
- p.Arg28Cys Single submitter ⚠
- p.Arg28His Single submitter ⚠
- p.Arg28Leu Single submitter ⚠
- p.Arg28Ser Single submitter ⚠
- p.Arg32Cys Single submitter ⚠
- p.Arg32Leu Single submitter ⚠
- p.Arg35Cys Single submitter ⚠
- p.Arg35His Single submitter ⚠
- p.Arg35Leu Single submitter ⚠
- p.Arg54Thr Single submitter ⚠
- p.Asn25Lys Single submitter ⚠
- p.Asp39Gly Single submitter ⚠
- p.Asp66Asn Single submitter ⚠
- p.Phe15Ile Single submitter ⚠
- p.Thr14Ala Single submitter ⚠
- p.Tyr33Cys Single submitter ⚠
- p.Tyr6His Single submitter ⚠