R266G (p.Arg266Gly) variant of CBS (Cystathionine beta-synthase)
R266G (p.Arg266Gly) 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 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R266G (p.Arg266Gly) variant details
- p.Arg266Gly
- rs2517436554
- ClinGen CA410600280
- ClinVar RCV003460356
- UniProt VAR 008073
- Likely pathogenic
- Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Classic homocystinuria)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the East Asian population (allele frequency 4.6e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.039
- Cited in: Cystathionine beta-synthase mutations in homocystinuria. (PMID 10338090)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)