P26L (p.Pro26Leu) variant of PKP1 (Plakophilin-1)
P26L (p.Pro26Leu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- ESP rs377481646
- ExAC rs377481646
- TOPMed rs377481646
- gnomAD rs377481646
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.40
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available