A110T (p.Ala110Thr) variant of JUP (Junction plakoglobin)
A110T (p.Ala110Thr) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
A110T (p.Ala110Thr) variant details
- p.Ala110Thr
- rs1916275770
- ClinGen CA399505426
- ClinVar RCV002025225
- TOPMed rs1916275770
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.62
- EVE 0.11
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)