P66S (p.Pro66Ser) variant of JUP (Junction plakoglobin)
P66S (p.Pro66Ser) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P66S (p.Pro66Ser) variant details
- p.Pro66Ser
- rs1555606922
- ClinGen CA399506570
- ClinVar RCV003084328
- ClinVar RCV004992497
- Conflicting interpretations
- Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Cardiovascular phe
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Conflicting classifications of pathogenicity (Naxos disease; Arrhythmogenic right ventricular dysplasia 12; Ca)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)