E104* (p.Glu104Ter) variant of CBS (Cystathionine beta-synthase)
E104* (p.Glu104Ter) in CBS (Cystathionine beta-synthase) is a protein-truncating change. The record also includes experimental measurements and structural context.
E104* (p.Glu104Ter) variant details
- p.Glu104Ter
- cosmic curated COSV61443
- Stop Gained
- Structural context available
- CBS low-B6 imputed and refined: score 0.662