R379Q (p.Arg379Gln) variant of CBS (Cystathionine beta-synthase)
R379Q (p.Arg379Gln) 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; Classic homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R379Q (p.Arg379Gln) variant details
- p.Arg379Gln
- rs763036586
- ClinGen CA274005
- cosmic curated COSV61443
- ClinVar RCV000169171
- Pathogenic
- Homocystinuria; not provided; Classic homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 23.50
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Pathogenic (Homocystinuria; not provided; Classic homocystinuria)
- 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: Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and… (PMID 12815602)
- Cited in: Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. (PMID 16429402)