Q18E (p.Gln18Glu) variant of JUP (Junction plakoglobin)
Q18E (p.Gln18Glu) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- ExAC rs782485736
- gnomAD rs782485736
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.7e-05)
- Structural context available