T353M (p.Thr353Met) variant of CBS (Cystathionine beta-synthase)
T353M (p.Thr353Met) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T353M (p.Thr353Met) variant details
- p.Thr353Met
- rs121964972
- ClinGen CA113902
- ClinVar RCV000000154
- ClinVar RCV000078106
- Pathogenic
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.61
- ESM-1b 0.68
- AlphaMissense 0.13
- CADD 19.00
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Pathogenic (CBS-related disorder; Homocystinuria; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the African/African-American population (allele frequency 0.0007)
- Structural context available
- CBS low-B6 imputed and refined: score 0.887
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with… (PMID 14635102)