C14Y (p.Cys14Tyr) variant of PKP1 (Plakophilin-1)
C14Y (p.Cys14Tyr) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
C14Y (p.Cys14Tyr) variant details
- p.Cys14Tyr
- gnomAD 1-201283743-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.24
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available