K53E (p.Lys53Glu) variant of PKP1 (Plakophilin-1)
K53E (p.Lys53Glu) in PKP1 (Plakophilin-1) is a missense change. The record also includes structural context.
K53E (p.Lys53Glu) variant details
- p.Lys53Glu
- TOPMed rs1422306414
- Missense
- Structural context available