S39G (p.Ser39Gly) variant of JUP (Junction plakoglobin)
S39G (p.Ser39Gly) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S39G (p.Ser39Gly) variant details
- p.Ser39Gly
- rs782211863
- ClinGen CA8565580
- ClinVar RCV001771276
- ClinVar RCV001868611
- Conflicting interpretations
- Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ve)
- EBI: Likely benign (in ARVD12)
- UniProt: Likely benign (in ARVD12)
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)