CAB39 — 13 ClinVar variants
All ClinVar germline CAB39 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
13 Uncertain significance
Full CAB39 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAB39 p.Asp239Glu Uncertain significance Single submitter
- CAB39 p.Gln69Pro Uncertain significance Single submitter
- CAB39 p.Ile110Thr Uncertain significance Single submitter
- CAB39 p.Lys10Arg Uncertain significance Single submitter
- CAB39 p.Phe185Tyr Uncertain significance Single submitter
- CAB39 p.Pro4Leu Uncertain significance Single submitter
- CAB39 p.Thr40Ser Uncertain significance Single submitter
- CAB39 p.Tyr223Asn Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CAB39 variants
Uncertain significance 13
- p.Asp239Glu Single submitter ⚠
- p.Gln69Pro Single submitter ⚠
- p.Ile110Thr Single submitter ⚠
- p.Ile303Met Single submitter ⚠
- p.Leu296Phe Single submitter ⚠
- p.Lys10Arg Single submitter ⚠
- p.Met50Val Single submitter ⚠
- p.Phe185Tyr Single submitter ⚠
- p.Phe210Leu Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Thr288Met Single submitter ⚠
- p.Thr40Ser Single submitter ⚠
- p.Tyr223Asn Single submitter ⚠