N66I (p.Asn66Ile) variant of PKP1 (Plakophilin-1)
N66I (p.Asn66Ile) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N66I (p.Asn66Ile) variant details
- p.Asn66Ile
- TOPMed rs1261682384
- gnomAD rs1261682384
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available