R125Q (p.Arg125Gln) variant of CBS (Cystathionine beta-synthase)
R125Q (p.Arg125Gln) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CBS-related disorder; Inborn errors of metabolism; Homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R125Q (p.Arg125Gln) variant details
- p.Arg125Gln
- rs781444670
- ClinGen CA275291
- cosmic curated COSV10065
- ClinVar RCV000178709
- Pathogenic
- CBS-related disorder; Inborn errors of metabolism; Homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.91
- MetaSVM 1.04
- CADD 26.60
- ClinVar: Pathogenic (CBS-related disorder; Inborn errors of metabolism; Homocystinuri)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the East Asian population (allele frequency 5.4e-05)
- Structural context available
- CBS low-B6 imputed and refined: score 0.741
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)