A114E (p.Ala114Glu) variant of CBS (Cystathionine beta-synthase)
A114E (p.Ala114Glu) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes experimental measurements and structural context.
A114E (p.Ala114Glu) variant details
- p.Ala114Glu
- cosmic curated COSV10065
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- ESM-1b 1.00
- AlphaMissense 0.92
- Structural context available
- CBS low-B6: score 0.118