A226S (p.Ala226Ser) variant of CBS (Cystathionine beta-synthase)
A226S (p.Ala226Ser) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A226S (p.Ala226Ser) variant details
- p.Ala226Ser
- rs763835246
- ClinGen CA410600648
- ClinVar RCV003865809
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.75
- MetaSVM 0.41
- CADD 20.40
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.698