S27P (p.Ser27Pro) variant of PKP1 (Plakophilin-1)
S27P (p.Ser27Pro) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- gnomAD 1-201283781-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.20
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available