E107K (p.Glu107Lys) variant of JPH2 (Junctophilin-2)
E107K (p.Glu107Lys) in JPH2 (Junctophilin-2) is a missense change. The record also includes structural context.
E107K (p.Glu107Lys) variant details
- p.Glu107Lys
- ExAC rs771530889
- gnomAD rs771530889
- Missense
- Structural context available