G5A (p.Gly5Ala) variant of PKP2 (Plakophilin-2)
G5A (p.Gly5Ala) in PKP2 (Plakophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- rs2541385249
- ClinGen CA604480711
- ClinVar RCV004018334
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)