A186V (p.Ala186Val) variant of PKP2 (Plakophilin-2)
A186V (p.Ala186Val) 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 0.27 / 1. The record also includes population frequency data and structural context.
A186V (p.Ala186Val) variant details
- p.Ala186Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.23
- MetaLR 0.28
- MetaSVM -0.82
- CADD 13.50
- PolyPhen-2 0.02
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available