S56R (p.Ser56Arg) variant of JPH2 (Junctophilin-2)
S56R (p.Ser56Arg) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- ExAC rs748126772
- gnomAD rs748126772
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available