T257M (p.Thr257Met) variant of CBS (Cystathionine beta-synthase)
T257M (p.Thr257Met) 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; CBS-related disorder; Homocystinu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T257M (p.Thr257Met) variant details
- p.Thr257Met
- rs758236584
- ClinGen CA274140
- ClinVar RCV000169294
- ClinVar RCV000197988
- Pathogenic/Likely pathogenic
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; CBS-related disorder; Homocystinu
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED; CBS-related disor)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Most common in the African/African-American population (allele frequency 0.00028)
- Structural context available
- CBS low-B6 imputed and refined: score 0.206
- Cited in: Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. (PMID 16205833)
- Cited in: The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of… (PMID 7762555)