E107K (p.Glu107Lys) variant of JUP (Junction plakoglobin)
E107K (p.Glu107Lys) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E107K (p.Glu107Lys) variant details
- p.Glu107Lys
- TOPMed rs1168143267
- gnomAD rs1168143267
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.15
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available