Q7E (p.Gln7Glu) variant of CBS (Cystathionine beta-synthase)
Q7E (p.Gln7Glu) 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.
Q7E (p.Gln7Glu) variant details
- p.Gln7Glu
- cosmic curated COSV10647
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- ESM-1b 0.00
- AlphaMissense 0.06
- Structural context available
- CBS high-B6 imputed and refined: score 0.243