Q292R (p.Gln292Arg) variant of PKP2 (Plakophilin-2)
Q292R (p.Gln292Arg) 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 0.52 / 1. The record also includes published literature and structural context.
Q292R (p.Gln292Arg) variant details
- p.Gln292Arg
- rs1292498500
- ClinGen CA384362118
- ClinVar RCV003047342
- NCI-TCGA TCGA novel
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- AlphaMissense 0.17
- MetaLR 0.63
- MetaSVM -0.53
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.35
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)