T104N (p.Thr104Asn) variant of JUP (Junction plakoglobin)
T104N (p.Thr104Asn) 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; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T104N (p.Thr104Asn) variant details
- p.Thr104Asn
- rs1185864978
- ClinGen CA399505530
- ClinVar RCV001237766
- ClinVar RCV006347573
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.28
- AlphaMissense 0.12
- MetaLR 0.20
- MetaSVM -0.65
- CADD 23.60
- PolyPhen-2 0.57
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)