S21F (p.Ser21Phe) variant of PKP1 (Plakophilin-1)
S21F (p.Ser21Phe) 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, published literature, and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- gnomAD 1-201283764-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.18
- CADD 25.10
- PolyPhen-2 0.49
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available