V118A (p.Val118Ala) variant of CBS (Cystathionine beta-synthase)
V118A (p.Val118Ala) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes experimental measurements, published literature, and structural context.
V118A (p.Val118Ala) variant details
- p.Val118Ala
- rs2517454033
- ClinGen CA2695201464
- ClinVar RCV003460346
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- ESM-1b 1.00
- AlphaMissense 0.50
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6 imputed and refined: score 0.242
- 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)