T19A (p.Thr19Ala) variant of JUP (Junction plakoglobin)
T19A (p.Thr19Ala) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- rs1555607105
- ClinGen CA399507179
- ClinVar RCV003442364
- ClinVar RCV003778480
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.08
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; no)
- EBI: Variant of uncertain significance (in ARVD12)
- UniProt: Uncertain significance (in ARVD12)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)