L30R (p.Leu30Arg) variant of PKP2 (Plakophilin-2)
L30R (p.Leu30Arg) 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 0.68 / 1. The record also includes published literature and structural context.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- rs1957128191
- ClinGen CA384371480
- ClinVar RCV004016865
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.98
- MetaLR 0.70
- MetaSVM 0.47
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.46
- 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)