C90F (p.Cys90Phe) variant of JUP (Junction plakoglobin)
C90F (p.Cys90Phe) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C90F (p.Cys90Phe) variant details
- p.Cys90Phe
- rs2544193735
- ClinGen CA399505757
- ClinVar RCV003028961
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.19
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)