K53R (p.Lys53Arg) variant of PKP1 (Plakophilin-1)
K53R (p.Lys53Arg) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- 1000Genomes rs199797410
- ExAC rs199797410
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.12
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available