D97H (p.Asp97His) variant of JUP (Junction plakoglobin)
D97H (p.Asp97His) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
D97H (p.Asp97His) variant details
- p.Asp97His
- rs2143696352
- ClinGen CA399505632
- ClinVar RCV001988844
- Ensembl rs2143696352
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.23
- MetaLR 0.15
- MetaSVM -0.76
- PolyPhen-2 0.85
- SIFT 0.14
- EVE 0.14
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)