P91L (p.Pro91Leu) variant of JUP (Junction plakoglobin)
P91L (p.Pro91Leu) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P91L (p.Pro91Leu) variant details
- p.Pro91Leu
- rs1567819889
- ClinGen CA399505734
- cosmic curated COSV10812
- ClinVar RCV002020750
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic right ventricular dysplasia 12; Naxos d
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.26
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic right ventricular dyspl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)