F15V (p.Phe15Val) variant of PKP1 (Plakophilin-1)
F15V (p.Phe15Val) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
F15V (p.Phe15Val) variant details
- p.Phe15Val
- ExAC rs765686962
- gnomAD rs765686962
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.27
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.21
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available