V202I (p.Val202Ile) variant of PKP2 (Plakophilin-2)
V202I (p.Val202Ile) 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 0.14 / 1. The record also includes population frequency data and structural context.
V202I (p.Val202Ile) variant details
- p.Val202Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.92
- CADD 1.84
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available