D96Y (p.Asp96Tyr) variant of PKP2 (Plakophilin-2)
D96Y (p.Asp96Tyr) 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 dysplasia 9; Arrhythmogenic right ventricular c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D96Y (p.Asp96Tyr) variant details
- p.Asp96Tyr
- rs2541344774
- ClinGen CA384366555
- ClinVar RCV004014109
- ClinVar RCV006483826
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular c
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.56
- MetaLR 0.65
- MetaSVM 0.37
- CADD 24.70
- PolyPhen-2 0.65
- SIFT 0.03
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic rig)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)