L100F (p.Leu100Phe) variant of JUP (Junction plakoglobin)
L100F (p.Leu100Phe) 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 0.37 / 1. The record also includes published literature and structural context.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- rs1555605883
- ClinGen CA399505585
- ClinVar RCV000549429
- TOPMed rs1555605883
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -0.58
- PolyPhen-2 0.26
- SIFT 0.68
- MutPred 0.34
- 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)