A331E (p.Ala331Glu) variant of CBS (Cystathionine beta-synthase)
A331E (p.Ala331Glu) 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 CBS-related disorder; Homocystinuria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A331E (p.Ala331Glu) variant details
- p.Ala331Glu
- rs777919630
- ClinGen CA323703
- ClinVar RCV000199169
- ClinVar RCV001778782
- Pathogenic/Likely pathogenic
- CBS-related disorder; Homocystinuria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.96
- MetaSVM 1.14
- CADD 24.50
- ClinVar: Pathogenic/Likely pathogenic (CBS-related disorder; Homocystinuria; not provided)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Population evidence available
- Structural context available
- CBS high-B6: score 0.0475
- Cited in: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations… (PMID 12124992)
- Cited in: Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with… (PMID 9156316)