G53V (p.Gly53Val) variant of CASK (O14936)
G53V (p.Gly53Val) in CASK (O14936) is a missense change. The record also includes experimental measurements and structural context.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- cosmic curated COSV10058
- Missense
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.525