DEFA4 — 22 ClinVar variants
All ClinVar germline DEFA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
2 Likely benign · 20 Uncertain significance
Full DEFA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DEFA4 p.Ala5Thr Uncertain significance Single submitter
- DEFA4 p.Arg35His Uncertain significance Single submitter
- DEFA4 p.Arg74Gln Uncertain significance Single submitter
- DEFA4 p.Arg78His Uncertain significance Single submitter
- DEFA4 p.Arg95His Uncertain significance Single submitter
- DEFA4 p.Asp27Asn Uncertain significance Single submitter
- DEFA4 p.Gln40Pro Uncertain significance Single submitter
- DEFA4 p.Leu12Phe Uncertain significance Single submitter
- DEFA4 p.Leu54Pro Uncertain significance Single submitter
- DEFA4 p.Pro30Ser Uncertain significance Single submitter
- DEFA4 p.Thr75Ile Uncertain significance Single submitter
- DEFA4 p.Thr90Arg Uncertain significance Single submitter
- DEFA4 p.Thr94Met Uncertain significance Single submitter
- DEFA4 p.Val13Leu Uncertain significance Single submitter
- DEFA4 p.Val17Asp Uncertain significance Single submitter
- DEFA4 p.Val56Ala Uncertain significance Single submitter
- DEFA4 p.Val56Ile Uncertain significance Single submitter
- DEFA4 p.Val79Ala Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DEFA4 variants
Likely benign 2
- p.Arg18Gln Single submitter
- p.Val17Ala Single submitter
Uncertain significance 20
- p.Ala5Thr Single submitter ⚠
- p.Arg35His Single submitter ⚠
- p.Arg74Gln Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Arg95His Single submitter ⚠
- p.Asp27Asn Single submitter ⚠
- p.Gln40Pro Single submitter ⚠
- p.Ile44Thr Single submitter ⚠
- p.Leu12Phe Single submitter ⚠
- p.Leu54Pro Single submitter ⚠
- p.Pro30Ser Single submitter ⚠
- p.Ser66Pro Single submitter ⚠
- p.Thr75Ile Single submitter ⚠
- p.Thr90Arg Single submitter ⚠
- p.Thr94Met Single submitter ⚠
- p.Val13Leu Single submitter ⚠
- p.Val17Asp Single submitter ⚠
- p.Val56Ala Single submitter ⚠
- p.Val56Ile Single submitter ⚠
- p.Val79Ala Single submitter ⚠