A288P (p.Ala288Pro) variant of CBS (Cystathionine beta-synthase)
A288P (p.Ala288Pro) 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 Homocystinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes experimental measurements, published literature, and structural context.
A288P (p.Ala288Pro) variant details
- p.Ala288Pro
- rs141502207
- ClinGen CA410600125
- ClinVar RCV001553570
- ESP rs141502207
- Likely pathogenic
- Homocystinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.96
- MetaSVM 1.11
- SIFT 0.05
- ClinVar: Likely pathogenic (Homocystinuria)
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6: score 0
- Cited in: The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common… (PMID 15365998)
- Cited in: Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an… (PMID 10215408)