S54F (p.Ser54Phe) variant of PKP1 (Plakophilin-1)
S54F (p.Ser54Phe) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- gnomAD 1-201283863-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.08
- CADD 27.80
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available