G347S (p.Gly347Ser) variant of CBS (Cystathionine beta-synthase)
G347S (p.Gly347Ser) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.91 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G347S (p.Gly347Ser) variant details
- p.Gly347Ser
- rs771298943
- ClinGen CA273978
- cosmic curated COSV61442
- ClinVar RCV000169132
- Pathogenic
- Homocystinuria; not provided; Familial thoracic aortic aneurysm and aortic disse
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.97
- MetaSVM 1.07
- SIFT 0.00
- MutPred 0.96
- ClinVar: 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 0.0042
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. (PMID 16205833)