P67L (p.Pro67Leu) variant of JUP (Junction plakoglobin)
P67L (p.Pro67Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- rs1427489722
- ClinGen CA399506547
- ClinVar RCV000801534
- gnomAD rs1427489722
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.13
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)