L145R (p.Leu145Arg) variant of PKP2 (Plakophilin-2)
L145R (p.Leu145Arg) 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 0.63 / 1. The record also includes published literature and structural context.
L145R (p.Leu145Arg) variant details
- p.Leu145Arg
- rs1248218497
- ClinGen CA384365279
- ClinVar RCV004013740
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- AlphaMissense 0.48
- MetaLR 0.67
- MetaSVM 0.45
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.43
- 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)