E107D (p.Glu107Asp) variant of JPH2 (Junctophilin-2)
E107D (p.Glu107Asp) in JPH2 (Junctophilin-2) is a missense change. The record also includes structural context.
E107D (p.Glu107Asp) variant details
- p.Glu107Asp
- TOPMed rs2072842138
- Missense
- Structural context available