E257K (p.Glu257Lys) variant of PKP2 (Plakophilin-2)
E257K (p.Glu257Lys) 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 0.56 / 1. The record also includes population frequency data and structural context.
E257K (p.Glu257Lys) variant details
- p.Glu257Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.44
- MetaLR 0.66
- MetaSVM -0.31
- CADD 25.10
- PolyPhen-2 0.45
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available