D46E (p.Asp46Glu) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
D46E (p.Asp46Glu) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs563762756
- gnomAD 12-68813610-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.11
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available