L33V (p.Leu33Val) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
L33V (p.Leu33Val) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- rs1295572460
- gnomAD 12-68809290-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.14
- CADD 29.50
- PolyPhen-2 0.64
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available