V85M (p.Val85Met) variant of JUP (Junction plakoglobin)
V85M (p.Val85Met) 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 0.43 / 1. The record also includes population frequency data and structural context.
V85M (p.Val85Met) variant details
- p.Val85Met
- ExAC rs782425952
- TOPMed rs782425952
- gnomAD rs782425952
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.18
- CADD 25.30
- PolyPhen-2 0.74
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available