V314A (p.Val314Ala) variant of CBS (Cystathionine beta-synthase)
V314A (p.Val314Ala) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
V314A (p.Val314Ala) variant details
- p.Val314Ala
- rs1438933819
- ClinGen CA410599956
- ClinVar RCV001257457
- gnomAD rs1438933819
- Pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.01
- MutPred 0.62
- ClinVar: Pathogenic (Classic homocystinuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.0227
- 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)