L33L (p.Leu33Leu) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
L33L (p.Leu33Leu) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L33L (p.Leu33Leu) variant details
- p.Leu33Leu
- gnomAD 12-68809292-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available