R125W (p.Arg125Trp) variant of CBS (Cystathionine beta-synthase)
R125W (p.Arg125Trp) 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 Homocystinuria; not provided; CBS-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R125W (p.Arg125Trp) variant details
- p.Arg125Trp
- rs886057100
- ClinGen CA10644742
- ClinVar RCV000667483
- ClinVar RCV001175468
- Pathogenic/Likely pathogenic
- Homocystinuria; not provided; CBS-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Homocystinuria; not provided; CBS-related disorder)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.741
- 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)