H65R (p.His65Arg) variant of CBS (Cystathionine beta-synthase)
H65R (p.His65Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes experimental measurements, published literature, and structural context.
H65R (p.His65Arg) variant details
- p.His65Arg
- rs1191141364
- ClinGen CA410602253
- ClinVar RCV001981105
- ClinVar RCV004770355
- Pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- ESM-1b 0.00
- AlphaMissense 0.55
- MetaLR 0.96
- MetaSVM 1.08
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6: score 0
- Cited in: Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. (PMID 11359213)
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)