G50S (p.Gly50Ser) variant of JPH2 (Junctophilin-2)
G50S (p.Gly50Ser) in JPH2 (Junctophilin-2) is a missense change. The record also includes structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- gnomAD rs1312773386
- Missense
- Structural context available