K56E (p.Lys56Glu) variant of JUP (Junction plakoglobin)
K56E (p.Lys56Glu) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- ExAC rs782760671
- gnomAD rs782760671
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.15
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available