T262A (p.Thr262Ala) variant of CBS (Cystathionine beta-synthase)
T262A (p.Thr262Ala) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Classic homocystinu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes experimental measurements, published literature, and structural context.
T262A (p.Thr262Ala) variant details
- p.Thr262Ala
- rs2517436753
- ClinGen CA410600302
- ClinVar RCV002293059
- ClinVar RCV003101691
- Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Classic homocystinu
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- ESM-1b 1.00
- AlphaMissense 0.14
- ClinVar: Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Cla)
- EBI: Likely pathogenic (in CBSD)
- UniProt: Likely pathogenic (in CBSD)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0102
- 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)