E73K (p.Glu73Lys) variant of JUP (Junction plakoglobin)
E73K (p.Glu73Lys) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E73K (p.Glu73Lys) variant details
- p.Glu73Lys
- gnomAD rs1555605984
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.08
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available