G41S (p.Gly41Ser) variant of JUP (Junction plakoglobin)
G41S (p.Gly41Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- rs2544215834
- ClinGen CA399506914
- ClinVar RCV003791019
- NCI-TCGA TCGA novel
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.11
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)