G256V (p.Gly256Val) variant of CBS (Cystathionine beta-synthase)
G256V (p.Gly256Val) 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 Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G256V (p.Gly256Val) variant details
- p.Gly256Val
- rs1157774154
- ClinGen CA410600333
- ClinVar RCV003234731
- gnomAD rs1157774154
- Likely pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Classic homocystinuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- CBS low-B6 imputed and refined: score 0.013
- 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)