A43V (p.Ala43Val) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
A43V (p.Ala43Val) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs2136114136
- gnomAD 12-68813600-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.38
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available