R336C (p.Arg336Cys) variant of CBS (Cystathionine beta-synthase)
R336C (p.Arg336Cys) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided. 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.
R336C (p.Arg336Cys) variant details
- p.Arg336Cys
- rs1064793703
- ClinGen CA16621014
- ClinVar RCV000487415
- ClinVar RCV002230902
- Pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.30
- ClinVar: Pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6 imputed and refined: score 0.0357
- Cited in: Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the… (PMID 10408774)
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)