E73A (p.Glu73Ala) variant of JUP (Junction plakoglobin)
E73A (p.Glu73Ala) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E73A (p.Glu73Ala) variant details
- p.Glu73Ala
- ExAC rs781793571
- gnomAD rs781793571
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.11
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.52
- Most common in the South Asian population (allele frequency 7.1e-05)
- Structural context available