R266K (p.Arg266Lys) variant of CBS (Cystathionine beta-synthase)
R266K (p.Arg266Lys) 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; Familial thoracic aortic aneurysm and aortic disse. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R266K (p.Arg266Lys) variant details
- p.Arg266Lys
- rs121964969
- ClinGen CA113891
- ClinVar RCV000000147
- ClinVar RCV000469164
- Pathogenic/Likely pathogenic
- Homocystinuria; not provided; Familial thoracic aortic aneurysm and aortic disse
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.84
- ESM-1b 0.52
- AlphaMissense 0.40
- CADD 24.00
- PolyPhen-2 0.75
- SIFT 0.12
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; not provided; Familial thoracic aortic aneurysm)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.039
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)
- Cited in: Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. (PMID 22738154)