A355P (p.Ala355Pro) variant of CBS (Cystathionine beta-synthase)
A355P (p.Ala355Pro) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CBS-related disorder; Homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes experimental measurements, published literature, and structural context.
A355P (p.Ala355Pro) variant details
- p.Ala355Pro
- rs1192581453
- UniProt VAR 021800
- gnomAD rs1192581453
- Likely pathogenic
- CBS-related disorder; Homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- ESM-1b 1.00
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.32
- SIFT 0.35
- MutPred 0.78
- ClinVar: Likely pathogenic (CBS-related disorder; Homocystinuria)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS high-B6 imputed and refined: score 0.132
- Cited in: Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. (PMID 9889017)
- Cited in: Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an… (PMID 10215408)