V371M (p.Val371Met) variant of CBS (Cystathionine beta-synthase)
V371M (p.Val371Met) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V371M (p.Val371Met) variant details
- p.Val371Met
- rs372010465
- ClinGen CA320805
- ClinVar RCV000196393
- ClinVar RCV000410135
- Pathogenic/Likely pathogenic
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.98
- MetaSVM 1.07
- CADD 24.40
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; Homocystinuria; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the African/African-American population (allele frequency 0.00043)
- Structural context available
- CBS low-B6 imputed and refined: score 0.005
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients. (PMID 7635485)