V85L (p.Val85Leu) variant of JUP (Junction plakoglobin)
V85L (p.Val85Leu) 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. 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.
V85L (p.Val85Leu) variant details
- p.Val85Leu
- rs782425952
- ClinGen CA8565537
- ClinVar RCV000528761
- ExAC rs782425952
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.10
- CADD 22.00
- PolyPhen-2 0.14
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.1e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)