C165Y (p.Cys165Tyr) variant of CBS (Cystathionine beta-synthase)
C165Y (p.Cys165Tyr) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Classic homocystinuria; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C165Y (p.Cys165Tyr) variant details
- p.Cys165Tyr
- rs1347651454
- ClinGen CA410601403
- cosmic curated COSV10967
- ClinVar RCV000587735
- Pathogenic
- Classic homocystinuria; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Classic homocystinuria; Familial thoracic aortic aneurysm and ao)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0
- Cited in: Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an… (PMID 10215408)
- Cited in: Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. (PMID 11359213)