C165G (p.Cys165Gly) variant of CBS (Cystathionine beta-synthase)
C165G (p.Cys165Gly) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes experimental measurements, published literature, and structural context.
C165G (p.Cys165Gly) variant details
- p.Cys165Gly
- rs1234354755
- ClinGen CA410601405
- ClinVar RCV000704014
- ClinVar RCV002233403
- Pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.92
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS high-B6 imputed and refined: 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)