A155T (p.Ala155Thr) variant of CBS (Cystathionine beta-synthase)
A155T (p.Ala155Thr) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
A155T (p.Ala155Thr) variant details
- p.Ala155Thr
- rs1429138569
- ClinGen CA410601506
- ClinVar RCV001090984
- ClinVar RCV002240730
- Conflicting interpretations
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.77
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Classic homocystinuria; HYPERHOMOCYSTEINEMIA, THRO)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS low-B6: score 0
- Cited in: Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. (PMID 11359213)
- Cited in: Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an… (PMID 10215408)