I11V (p.Ile11Val) variant of JUP (Junction plakoglobin)
I11V (p.Ile11Val) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- ExAC rs782310972
- gnomAD rs782310972
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.07
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available