T262M (p.Thr262Met) variant of CBS (Cystathionine beta-synthase)
T262M (p.Thr262Met) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T262M (p.Thr262Met) variant details
- p.Thr262Met
- rs149119723
- ClinGen CA275440
- ClinVar RCV000180461
- ClinVar RCV000200469
- Pathogenic/Likely pathogenic
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.92
- MetaSVM 1.06
- CADD 27.40
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; Homocystinuria; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00025)
- Structural context available
- CBS low-B6 imputed and refined: score 0.0102
- Cited in: Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase… (PMID 9361025)
- Cited in: Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. (PMID 9889017)