S60F (p.Ser60Phe) variant of PKP1 (Plakophilin-1)
S60F (p.Ser60Phe) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S60F (p.Ser60Phe) variant details
- p.Ser60Phe
- ExAC rs751867536
- gnomAD rs751867536
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.22
- CADD 29.50
- PolyPhen-2 0.92
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available