P244R (p.Pro244Arg) variant of PKP2 (Plakophilin-2)
P244R (p.Pro244Arg) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
P244R (p.Pro244Arg) variant details
- p.Pro244Arg
- rs2541340065
- ClinGen CA384362900
- ClinVar RCV004519050
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available