N66D (p.Asn66Asp) variant of PKP1 (Plakophilin-1)
N66D (p.Asn66Asp) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N66D (p.Asn66Asp) variant details
- p.Asn66Asp
- gnomAD 1-201283898-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.08
- CADD 23.40
- PolyPhen-2 0.40
- SIFT 0.10
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available