Q55K (p.Gln55Lys) variant of CBS (Cystathionine beta-synthase)
Q55K (p.Gln55Lys) 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.
Q55K (p.Gln55Lys) variant details
- p.Gln55Lys
- gnomAD rs1292304665
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available
- CBS low-B6: score 0.0927