D232G (p.Asp232Gly) variant of PKP2 (Plakophilin-2)
D232G (p.Asp232Gly) 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.
D232G (p.Asp232Gly) variant details
- p.Asp232Gly
- rs2541340287
- ClinGen CA384363274
- ClinVar RCV004125037
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available