V454E (p.Val454Glu) variant of CBS (Cystathionine beta-synthase)
V454E (p.Val454Glu) 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 experimental measurements, published literature, and structural context.
V454E (p.Val454Glu) variant details
- p.Val454Glu
- rs1398459455
- ClinGen CA410396823
- ClinVar RCV003064630
- UniProt VAR 002193
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -1.01
- SIFT 0.76
- MutPred 0.50
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS high-B6 imputed and refined: score 0.815
- Cited in: A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. (PMID 8528202)
- Cited in: Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an… (PMID 10215408)