V93G (p.Val93Gly) variant of JUP (Junction plakoglobin)
V93G (p.Val93Gly) 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 0.31 / 1. The record also includes published literature and structural context.
V93G (p.Val93Gly) variant details
- p.Val93Gly
- rs1916292032
- ClinGen CA399505692
- ClinVar RCV002007111
- TOPMed rs1916292032
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -0.85
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.18
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)