S117C (p.Ser117Cys) variant of CBS (Cystathionine beta-synthase)
S117C (p.Ser117Cys) 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 Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
S117C (p.Ser117Cys) variant details
- p.Ser117Cys
- rs1982753226
- ClinGen CA410601894
- ClinVar RCV001138042
- ClinVar RCV006465455
- Uncertain significance
- Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; Familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.99
- MetaSVM 0.97
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- CBS low-B6 imputed and refined: score 0.862
- 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)