Q105R (p.Gln105Arg) variant of JUP (Junction plakoglobin)
Q105R (p.Gln105Arg) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
Q105R (p.Gln105Arg) variant details
- p.Gln105Arg
- gnomAD rs1555605868
- Uncertain significance
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.08
- ClinVar: Uncertain significance (Naxos disease; Arrhythmogenic right ventricular dysplasia 12)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available