D109A (p.Asp109Ala) variant of PKP2 (Plakophilin-2)
D109A (p.Asp109Ala) 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 0.58 / 1. The record also includes published literature and structural context.
D109A (p.Asp109Ala) variant details
- p.Asp109Ala
- rs756446946
- ClinGen CA384366364
- ClinVar RCV004015534
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.30
- MetaLR 0.60
- MetaSVM 0.21
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.47
- 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)