D97V (p.Asp97Val) variant of JUP (Junction plakoglobin)
D97V (p.Asp97Val) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D97V (p.Asp97Val) variant details
- p.Asp97Val
- ExAC rs781802118
- gnomAD rs781802118
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available