A158V (p.Ala158Val) variant of CBS (Cystathionine beta-synthase)
A158V (p.Ala158Val) 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; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A158V (p.Ala158Val) variant details
- p.Ala158Val
- rs1376851289
- ClinGen CA410601473
- cosmic curated COSV10606
- ClinVar RCV002024992
- Pathogenic/Likely pathogenic
- CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocystinu
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELA)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.26
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)