E182K (p.Glu182Lys) variant of PKP2 (Plakophilin-2)
E182K (p.Glu182Lys) in PKP2 (Plakophilin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E182K (p.Glu182Lys) variant details
- p.Glu182Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.25
- MetaLR 0.42
- MetaSVM -0.72
- CADD 20.90
- PolyPhen-2 0.02
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available