G259S (p.Gly259Ser) variant of CBS (Cystathionine beta-synthase)
G259S (p.Gly259Ser) 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 Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocysti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G259S (p.Gly259Ser) variant details
- p.Gly259Ser
- rs143124288
- ClinGen CA321094274
- ClinVar RCV002235503
- ClinVar RCV003226347
- Pathogenic/Likely pathogenic
- Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Homocysti
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 4.6e-05)
- Structural context available
- CBS low-B6: score 0
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Homocystinuria due to Cystathionine Beta-Synthase Deficiency. (PMID 20301697)