K53K (p.Lys53Lys) variant of PKP1 (Plakophilin-1)
K53K (p.Lys53Lys) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K53K (p.Lys53Lys) variant details
- p.Lys53Lys
- gnomAD 1-201283861-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available