Q59A (p.Gln59Ala) variant of PKP2 (Plakophilin-2)
Q59A (p.Gln59Ala) in PKP2 (Plakophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ARVD9. The record also includes published literature and structural context.
Q59A (p.Gln59Ala) variant details
- p.Gln59Ala
- rs2541384294
- ClinGen CA2580085397
- ClinVar RCV003025803
- Pathogenic
- in ARVD9
- Missense
- EBI: Pathogenic (in ARVD9)
- UniProt: Pathogenic (in ARVD9)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)