G148R (p.Gly148Arg) variant of CBS (Cystathionine beta-synthase)
G148R (p.Gly148Arg) 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 Familial thoracic aortic aneurysm and aortic dissection; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G148R (p.Gly148Arg) variant details
- p.Gly148Arg
- rs755952006
- ClinGen CA16042005
- cosmic curated COSV10742
- ClinVar RCV000411624
- Pathogenic/Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Classic)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the African/African-American population (allele frequency 0.00011)
- Structural context available
- CBS high-B6 imputed and refined: score 0.0386
- Cited in: Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. (PMID 15146473)
- Cited in: Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. (PMID 16429402)