N20I (p.Asn20Ile) variant of PKP1 (Plakophilin-1)
N20I (p.Asn20Ile) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N20I (p.Asn20Ile) variant details
- p.Asn20Ile
- gnomAD 1-201283761-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.10
- CADD 25.10
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available