S56F (p.Ser56Phe) variant of PKP1 (Plakophilin-1)
S56F (p.Ser56Phe) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S56F (p.Ser56Phe) variant details
- p.Ser56Phe
- gnomAD 1-201283869-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.25
- CADD 23.30
- PolyPhen-2 0.28
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available