R171K (p.Arg171Lys) variant of PKP2 (Plakophilin-2)
R171K (p.Arg171Lys) 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 cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R171K (p.Arg171Lys) variant details
- p.Arg171Lys
- rs2541341631
- ClinGen CA384364813
- ClinVar RCV004013897
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.15
- MetaLR 0.30
- MetaSVM -0.91
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)