K50E (p.Lys50Glu) variant of PKP1 (Plakophilin-1)
K50E (p.Lys50Glu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- gnomAD 1-201283850-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.02
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available