G153R (p.Gly153Arg) variant of CBS (Cystathionine beta-synthase)
G153R (p.Gly153Arg) 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 Homocystinuria; not provided; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G153R (p.Gly153Arg) variant details
- p.Gly153Arg
- rs745704046
- ClinGen CA320011
- cosmic curated COSV61441
- ClinVar RCV000689266
- Pathogenic/Likely pathogenic
- Homocystinuria; not provided; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; not provided; Classic homocystinuria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 5.2e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0246
- 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)