V106L (p.Val106Leu) variant of JUP (Junction plakoglobin)
V106L (p.Val106Leu) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V106L (p.Val106Leu) variant details
- p.Val106Leu
- Ensembl rs1916280446
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.03
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available