A114G (p.Ala114Gly) variant of CBS (Cystathionine beta-synthase)
A114G (p.Ala114Gly) in CBS (Cystathionine beta-synthase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CBSD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes experimental measurements and structural context.
A114G (p.Ala114Gly) variant details
- p.Ala114Gly
- 1000Genomes rs121964964
- ESP rs121964964
- ExAC rs121964964
- gnomAD rs121964964
- Pathogenic
- in CBSD
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- ESM-1b 1.00
- AlphaMissense 0.31
- EBI: Pathogenic (in CBSD)
- UniProt: Pathogenic (in CBSD)
- Structural context available
- CBS low-B6: score 0.118