V93M (p.Val93Met) variant of JUP (Junction plakoglobin)
V93M (p.Val93Met) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V93M (p.Val93Met) variant details
- p.Val93Met
- gnomAD rs1555605915
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.11
- CADD 13.50
- PolyPhen-2 0.21
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available