C109Y (p.Cys109Tyr) variant of CBS (Cystathionine beta-synthase)
C109Y (p.Cys109Tyr) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C109Y (p.Cys109Tyr) variant details
- p.Cys109Tyr
- rs2517454427
- ClinGen CA410601944
- ClinVar RCV003599745
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.361