S27L (p.Ser27Leu) variant of PKP1 (Plakophilin-1)
S27L (p.Ser27Leu) 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.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- 1000Genomes rs2102402212
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.22
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available