E2D (p.Glu2Asp) variant of JUP (Junction plakoglobin)
E2D (p.Glu2Asp) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- ExAC rs782145510
- gnomAD rs782145510
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.04
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available