L57F (p.Leu57Phe) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
L57F (p.Leu57Phe) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L57F (p.Leu57Phe) variant details
- p.Leu57Phe
- rs1212534918
- gnomAD 12-68815648-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 7.20
- Population evidence available
- Structural context available
- Literature evidence available