R250G (p.Arg250Gly) variant of PKP2 (Plakophilin-2)
R250G (p.Arg250Gly) 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.
R250G (p.Arg250Gly) variant details
- p.Arg250Gly
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99298
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.23
- MetaLR 0.51
- MetaSVM -0.46
- CADD 23.10
- PolyPhen-2 0.13
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available