Q220R (p.Gln220Arg) variant of PKP2 (Plakophilin-2)
Q220R (p.Gln220Arg) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q220R (p.Gln220Arg) variant details
- p.Gln220Arg
- rs2541340546
- ClinGen CA384363654
- ClinVar RCV002597057
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.15
- MetaLR 0.28
- MetaSVM -0.89
- CADD 9.64
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)