E149D (p.Glu149Asp) variant of PKP2 (Plakophilin-2)
E149D (p.Glu149Asp) 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 0.39 / 1. The record also includes published literature and structural context.
E149D (p.Glu149Asp) variant details
- p.Glu149Asp
- rs778151977
- ClinGen CA384365227
- ClinVar RCV004013593
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.81
- MetaLR 0.38
- MetaSVM -0.61
- PolyPhen-2 0.04
- SIFT 0.38
- EVE 0.24
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)