G453R (p.Gly453Arg) variant of CBS (Cystathionine beta-synthase)
G453R (p.Gly453Arg) 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 0.92 / 1. The record also includes experimental measurements, published literature, and structural context.
G453R (p.Gly453Arg) variant details
- p.Gly453Arg
- rs886057099
- ClinGen CA410396871
- ClinVar RCV003989272
- gnomAD rs886057099
- Likely pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.96
- MetaSVM 1.11
- SIFT 0.00
- MutPred 0.81
- ClinVar: Likely pathogenic (Classic homocystinuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- CBS low-B6: score 0
- 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)