CABP1 — 15 ClinVar variants
All ClinVar germline CABP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Likely benign · 14 Uncertain significance
Full CABP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CABP1 p.Asp284Glu Uncertain significance Single submitter
- CABP1 p.Ile302Thr Uncertain significance Single submitter
- CABP1 p.Leu179Arg Uncertain significance Single submitter
- CABP1 p.Leu334Pro Uncertain significance Single submitter
- CABP1 p.Leu335Arg Uncertain significance Single submitter
- CABP1 p.Leu335Met Uncertain significance Single submitter
- CABP1 p.Pro292Thr Uncertain significance Single submitter
- CABP1 p.Ser323Asn Uncertain significance Single submitter
- CABP1 p.Thr298Ala Uncertain significance Single submitter
- CABP1 p.Thr43Ser Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CABP1 variants
Likely benign 1
- c.655-3873C>T Single submitter
Uncertain significance 14
- p.Arg312Gln Single submitter ⚠
- p.Arg92Trp Single submitter ⚠
- p.Asp284Glu Single submitter ⚠
- p.His280Arg Single submitter ⚠
- p.Ile302Thr Single submitter ⚠
- p.Leu179Arg Single submitter ⚠
- p.Leu334Pro Single submitter ⚠
- p.Leu335Arg Single submitter ⚠
- p.Leu335Met Single submitter ⚠
- p.Met331Leu Single submitter ⚠
- p.Pro292Thr Single submitter ⚠
- p.Ser323Asn Single submitter ⚠
- p.Thr298Ala Single submitter ⚠
- p.Thr43Ser Single submitter ⚠