E35R (p.Glu35Arg) variant of PKP2 (Plakophilin-2)
E35R (p.Glu35Arg) 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.
E35R (p.Glu35Arg) variant details
- p.Glu35Arg
- rs2541384720
- ClinGen CA2582342495
- ClinVar RCV003340737
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)