R317G (p.Arg317Gly) variant of CBS (Cystathionine beta-synthase)
R317G (p.Arg317Gly) 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 Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R317G (p.Arg317Gly) variant details
- p.Arg317Gly
- rs775432669
- ClinGen CA321091261
- ClinVar RCV003075119
- ClinVar RCV003234597
- Pathogenic/Likely pathogenic
- Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- ESM-1b 1.00
- AlphaMissense 0.39
- MetaLR 0.82
- MetaSVM 0.58
- SIFT 0.01
- MutPred 0.44
- ClinVar: Pathogenic/Likely pathogenic (Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.271
- 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)