R379W (p.Arg379Trp) variant of CBS (Cystathionine beta-synthase)
R379W (p.Arg379Trp) 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 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R379W (p.Arg379Trp) variant details
- p.Arg379Trp
- rs769080151
- ClinGen CA320740
- ClinVar RCV000196320
- ClinVar RCV000763061
- Pathogenic/Likely pathogenic
- Homocystinuria; not provided; Familial thoracic aortic aneurysm and aortic disse
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.51
- MetaLR 0.98
- MetaSVM 1.10
- CADD 23.70
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; not provided; Familial thoracic aortic aneurysm)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.033
- Cited in: The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common… (PMID 15365998)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)