S40C (p.Ser40Cys) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
S40C (p.Ser40Cys) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S40C (p.Ser40Cys) variant details
- p.Ser40Cys
- gnomAD 12-68815634-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.39
- Population evidence available
- Structural context available
- Literature evidence available