L62L (p.Leu62Leu) variant of PKP1 (Plakophilin-1)
L62L (p.Leu62Leu) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L62L (p.Leu62Leu) variant details
- p.Leu62Leu
- rs767657184
- gnomAD 1-201283888-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 13.80
- Population evidence available
- Structural context available
- Literature evidence available