DEFA3 — 21 ClinVar variants
All ClinVar germline DEFA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
2 Likely benign · 19 Uncertain significance
Full DEFA3 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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFA3 p.Ala14Val Uncertain significance Single submitter
- DEFA3 p.Ala19Ser Uncertain significance Single submitter
- DEFA3 p.Ala75Val Uncertain significance Single submitter
- DEFA3 p.Arg79His Uncertain significance Single submitter
- DEFA3 p.Arg88Gly Uncertain significance Single submitter
- DEFA3 p.Asp50Asn Uncertain significance Single submitter
- DEFA3 p.Asp50His Uncertain significance Single submitter
- DEFA3 p.Cys66Tyr Uncertain significance Single submitter
- DEFA3 p.Glu51Gln Uncertain significance Single submitter
- DEFA3 p.Glu51Lys Uncertain significance Single submitter
- DEFA3 p.Gly59Asp Uncertain significance Single submitter
- DEFA3 p.Ile10Leu Uncertain significance Single submitter
- DEFA3 p.Ile40Leu Uncertain significance Single submitter
- DEFA3 p.Pro55Gln Uncertain significance Single submitter
- DEFA3 p.Val45Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All DEFA3 variants
Uncertain significance 19
- p.Ala14Val Single submitter ⚠
- p.Ala17Asp Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Ala75Val Single submitter ⚠
- p.Arg2Gly Single submitter
- p.Arg78Cys Single submitter ⚠
- p.Arg79His Single submitter ⚠
- p.Arg88Gly Single submitter ⚠
- p.Asp50Asn Single submitter ⚠
- p.Asp50His Single submitter ⚠
- p.Cys66Tyr Single submitter ⚠
- p.Glu51Gln Single submitter ⚠
- p.Glu51Lys Single submitter ⚠
- p.Gly59Asp Single submitter ⚠
- p.Gly76Glu Single submitter ⚠
- p.Ile10Leu Single submitter ⚠
- p.Ile40Leu Single submitter ⚠
- p.Pro55Gln Single submitter ⚠
- p.Val45Ala Single submitter ⚠