K55N (p.Lys55Asn) variant of PKP1 (Plakophilin-1)
K55N (p.Lys55Asn) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K55N (p.Lys55Asn) variant details
- p.Lys55Asn
- gnomAD 1-201283867-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.11
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available