G307S (p.Gly307Ser) variant of CBS (Cystathionine beta-synthase)
G307S (p.Gly307Ser) 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; Homocystinuria; 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.
G307S (p.Gly307Ser) variant details
- p.Gly307Ser
- rs121964962
- ClinGen CA113874
- cosmic curated COSV61446
- ClinVar RCV000000137
- Pathogenic
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (CBS-related disorder; Homocystinuria; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6: score 0
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. (PMID 12552044)