C52S (p.Cys52Ser) variant of CBS (Cystathionine beta-synthase)
C52S (p.Cys52Ser) 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 0.61 / 1. The record also includes experimental measurements and structural context.
C52S (p.Cys52Ser) variant details
- p.Cys52Ser
- rs2146427772
- ClinGen CA410602335
- ClinVar RCV002042352
- Ensembl rs2146427772
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- ESM-1b 0.00
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.47
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.0945