E9Q (p.Glu9Gln) variant of CBS (Cystathionine beta-synthase)
E9Q (p.Glu9Gln) 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.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- ExAC rs758092887
- gnomAD rs758092887
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available
- CBS low-B6 imputed and refined: score 0.139