S2C (p.Ser2Cys) variant of JPH2 (Junctophilin-2)
S2C (p.Ser2Cys) in JPH2 (Junctophilin-2) is a missense change. The record also includes structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- gnomAD rs1226782336
- Missense
- Structural context available