L38S (p.Leu38Ser) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
L38S (p.Leu38Ser) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L38S (p.Leu38Ser) variant details
- p.Leu38Ser
- rs1226240451
- gnomAD 12-68813576-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.33
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available