E104K (p.Glu104Lys) variant of CBS (Cystathionine beta-synthase)
E104K (p.Glu104Lys) in CBS (Cystathionine beta-synthase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes experimental measurements and structural context.
E104K (p.Glu104Lys) variant details
- p.Glu104Lys
- cosmic curated COSV61446
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- ESM-1b 1.00
- AlphaMissense 0.34
- Structural context available
- CBS low-B6 imputed and refined: score 0.662