Q105H (p.Gln105His) variant of JUP (Junction plakoglobin)
Q105H (p.Gln105His) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q105H (p.Gln105His) variant details
- p.Gln105His
- rs375489362
- ClinGen CA290700901
- ClinVar RCV002040836
- ESP rs375489362
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.20
- CADD 18.70
- PolyPhen-2 0.22
- SIFT 0.19
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)