G41D (p.Gly41Asp) variant of JUP (Junction plakoglobin)
G41D (p.Gly41Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G41D (p.Gly41Asp) variant details
- p.Gly41Asp
- rs2143735580
- ClinGen CA399506911
- ClinVar RCV003080889
- ClinVar RCV003883880
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.26
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)