L6L (p.Leu6Leu) variant of PKP1 (Plakophilin-1)
L6L (p.Leu6Leu) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- gnomAD 1-201283720-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 15.50
- Population evidence available
- Structural context available
- Literature evidence available