R204L (p.Arg204Leu) variant of PKP2 (Plakophilin-2)
R204L (p.Arg204Leu) 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 0.17 / 1. The record also includes population frequency data and structural context.
R204L (p.Arg204Leu) variant details
- p.Arg204Leu
- NCI-TCGA Cosmic COSV5074
- cosmic curated COSV50742
- NCI-TCGA Cosmic COSV9929
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.19
- MetaLR 0.23
- MetaSVM -0.88
- CADD 1.03
- PolyPhen-2 0.00
- SIFT 0.93
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available