A82S (p.Ala82Ser) variant of JUP (Junction plakoglobin)
A82S (p.Ala82Ser) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A82S (p.Ala82Ser) variant details
- p.Ala82Ser
- TOPMed rs1555605963
- gnomAD rs1555605963
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.13
- CADD 17.70
- PolyPhen-2 0.02
- SIFT 0.92
- Population evidence available
- Structural context available