R45W (p.Arg45Trp) variant of CBS (Cystathionine beta-synthase)
R45W (p.Arg45Trp) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec. 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.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- rs201372812
- ClinGen CA323483
- cosmic curated COSV61445
- ClinVar RCV000198945
- Conflicting interpretations
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- ESM-1b 0.76
- AlphaMissense 0.15
- MetaLR 0.96
- MetaSVM 1.01
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.549
- 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)