G305R (p.Gly305Arg) variant of CBS (Cystathionine beta-synthase)
G305R (p.Gly305Arg) 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 0.98 / 1. The record also includes experimental measurements, published literature, and structural context.
G305R (p.Gly305Arg) variant details
- p.Gly305Arg
- rs1178687976
- ClinGen CA410600017
- ClinVar RCV003460338
- UniProt VAR 008077
- Pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.92
- SIFT 0.00
- MutPred 0.91
- ClinVar: Pathogenic (Classic homocystinuria)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0141
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)