V371L (p.Val371Leu) variant of CBS (Cystathionine beta-synthase)
V371L (p.Val371Leu) 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 0.86 / 1. The record also includes experimental measurements and structural context.
V371L (p.Val371Leu) variant details
- p.Val371Leu
- rs372010465
- ClinGen CA410398031
- ClinVar RCV003598642
- ESP rs372010465
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.98
- MetaSVM 1.07
- SIFT 0.02
- MutPred 0.77
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.005