E75A (p.Glu75Ala) variant of JPH2 (Junctophilin-2)
E75A (p.Glu75Ala) in JPH2 (Junctophilin-2) is a missense change. The record also includes structural context.
E75A (p.Glu75Ala) variant details
- p.Glu75Ala
- Ensembl rs545630939
- Missense
- Structural context available