G50V (p.Gly50Val) variant of JPH2 (Junctophilin-2)
G50V (p.Gly50Val) in JPH2 (Junctophilin-2) is a missense change. The record also includes structural context.
G50V (p.Gly50Val) variant details
- p.Gly50Val
- Ensembl rs2145906185
- Missense
- Structural context available