A205P (p.Ala205Pro) variant of PKP2 (Plakophilin-2)
A205P (p.Ala205Pro) 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.
A205P (p.Ala205Pro) variant details
- p.Ala205Pro
- rs2541340967
- ClinGen CA384364031
- ClinVar RCV002360380
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available