P66L (p.Pro66Leu) variant of JUP (Junction plakoglobin)
P66L (p.Pro66Leu) 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; Arrhythmogenic right ventricular dysplasia 12; Naxos d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P66L (p.Pro66Leu) variant details
- p.Pro66Leu
- rs542144750
- ClinGen CA8565563
- cosmic curated COSV60277
- ClinVar RCV002913058
- Conflicting interpretations
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.07
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)