A48D (p.Ala48Asp) variant of JUP (Junction plakoglobin)
A48D (p.Ala48Asp) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- rs2143735114
- ClinGen CA399506814
- ClinVar RCV001981758
- Ensembl rs2143735114
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.16
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)