L38I (p.Leu38Ile) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
L38I (p.Leu38Ile) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L38I (p.Leu38Ile) variant details
- p.Leu38Ile
- gnomAD 12-68813572-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.22
- CADD 24.40
- PolyPhen-2 0.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available