E171* (p.Glu171Ter) variant of CASK (O14936)
E171* (p.Glu171Ter) in CASK (O14936) is a protein-truncating change. The record also includes structural context.
E171* (p.Glu171Ter) variant details
- p.Glu171Ter
- cosmic curated COSV59361
- Stop Gained
- Structural context available