E34G (p.Glu34Gly) variant of CBS (Cystathionine beta-synthase)
E34G (p.Glu34Gly) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes experimental measurements and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- ExAC rs757899237
- gnomAD rs757899237
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.05
- Structural context available
- CBS low-B6: score 0.0445