R58W (p.Arg58Trp) variant of CBS (Cystathionine beta-synthase)
R58W (p.Arg58Trp) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R58W (p.Arg58Trp) variant details
- p.Arg58Trp
- rs555959266
- ClinGen CA321103816
- ClinVar RCV001963724
- UniProt VAR 008050
- Uncertain significance
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- ESM-1b 0.53
- AlphaMissense 0.10
- MetaLR 0.95
- MetaSVM 0.98
- SIFT 0.01
- MutPred 0.74
- ClinVar: Uncertain significance (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6 imputed and refined: score 0.134
- 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: Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an… (PMID 10215408)