S99L (p.Ser99Leu) variant of JUP (Junction plakoglobin)
S99L (p.Ser99Leu) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S99L (p.Ser99Leu) variant details
- p.Ser99Leu
- rs554046226
- ClinGen CA8565524
- ClinVar RCV001363544
- ClinVar RCV005648136
- Conflicting interpretations
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.10
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Ca)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)