T62N (p.Thr62Asn) variant of JUP (Junction plakoglobin)
T62N (p.Thr62Asn) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T62N (p.Thr62Asn) variant details
- p.Thr62Asn
- rs1555606943
- ClinGen CA399506629
- ClinVar RCV001245893
- gnomAD rs1555606943
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.06
- CADD 17.40
- PolyPhen-2 0.04
- SIFT 0.68
- 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 1.8e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)