A43D (p.Ala43Asp) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
A43D (p.Ala43Asp) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A43D (p.Ala43Asp) variant details
- p.Ala43Asp
- gnomAD 12-68815674-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 7.82
- Population evidence available
- Structural context available
- Literature evidence available