S38R (p.Ser38Arg) variant of JUP (Junction plakoglobin)
S38R (p.Ser38Arg) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- rs782391511
- ClinGen CA8565581
- ClinVar RCV001984865
- ExAC rs782391511
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.09
- CADD 21.90
- PolyPhen-2 0.29
- SIFT 0.03
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)