T262R (p.Thr262Arg) variant of CBS (Cystathionine beta-synthase)
T262R (p.Thr262Arg) 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 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
T262R (p.Thr262Arg) variant details
- p.Thr262Arg
- rs149119723
- ClinGen CA410600299
- ClinVar RCV003494762
- UniProt VAR 021795
- Pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.92
- MetaSVM 1.06
- SIFT 0.00
- ClinVar: Pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0102
- Cited in: Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis. (PMID 11013450)
- Cited in: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. (PMID 20506325)