R18C (p.Arg18Cys) variant of CBS (Cystathionine beta-synthase)
R18C (p.Arg18Cys) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- rs201827340
- ClinGen CA10587951
- cosmic curated COSV61443
- ClinVar RCV000359251
- Benign/Likely benign
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.84
- MetaSVM 0.29
- SIFT 0.78
- MutPred 0.12
- ClinVar: Benign/Likely benign (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.749
- Cited in: Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. (PMID 16205833)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)