S40E (p.Ser40Glu) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
S40E (p.Ser40Glu) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S40E (p.Ser40Glu) variant details
- p.Ser40Glu
- rs1290275052
- gnomAD 12-68815631-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.82
- Population evidence available
- Structural context available
- Literature evidence available