A43L (p.Ala43Leu) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
A43L (p.Ala43Leu) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A43L (p.Ala43Leu) variant details
- p.Ala43Leu
- gnomAD 12-68815670-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 5.63
- Population evidence available
- Structural context available
- Literature evidence available