A226T (p.Ala226Thr) variant of CBS (Cystathionine beta-synthase)
A226T (p.Ala226Thr) 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 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A226T (p.Ala226Thr) variant details
- p.Ala226Thr
- rs763835246
- ClinGen CA16042003
- cosmic curated COSV11509
- ClinVar RCV000412334
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.75
- MetaSVM 0.41
- CADD 23.10
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; not provided; Hom)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- CBS low-B6 imputed and refined: score 0.698
- Cited in: Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with… (PMID 14635102)
- Cited in: Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. (PMID 16429402)