N66K (p.Asn66Lys) variant of PKP1 (Plakophilin-1)
N66K (p.Asn66Lys) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
N66K (p.Asn66Lys) variant details
- p.Asn66Lys
- gnomAD 1-201283900-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.05
- CADD 18.80
- PolyPhen-2 0.39
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available