E189V (p.Glu189Val) variant of CASK (O14936)
E189V (p.Glu189Val) in CASK (O14936) is a missense change. The record also includes structural context.
E189V (p.Glu189Val) variant details
- p.Glu189Val
- cosmic curated COSV59364
- Missense
- Structural context available