Y130H (p.Tyr130His) variant of PKP2 (Plakophilin-2)
Y130H (p.Tyr130His) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The record also includes published literature and structural context.
Y130H (p.Tyr130His) variant details
- p.Tyr130His
- rs2541342895
- ClinGen CA384365413
- ClinVar RCV003532786
- Uncertain significance
- Cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)