K134Q (p.Lys134Gln) variant of PKP2 (Plakophilin-2)
K134Q (p.Lys134Gln) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K134Q (p.Lys134Gln) variant details
- p.Lys134Gln
- rs2541342733
- ClinGen CA384365387
- ClinVar RCV004013508
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.29
- MetaLR 0.60
- MetaSVM 0.19
- CADD 23.80
- PolyPhen-2 0.74
- SIFT 0.38
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-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)