S68N (p.Ser68Asn) variant of JUP (Junction plakoglobin)
S68N (p.Ser68Asn) 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; Cardiovascular phe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
S68N (p.Ser68Asn) variant details
- p.Ser68Asn
- rs1555606905
- ClinGen CA399506537
- ClinVar RCV003181549
- ClinVar RCV005227920
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.073
- REVEL 0.03
- CADD 8.17
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease; Ca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)