S40A (p.Ser40Ala) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
S40A (p.Ser40Ala) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S40A (p.Ser40Ala) variant details
- p.Ser40Ala
- gnomAD 12-68813590-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.06
- CADD 20.00
- PolyPhen-2 0.12
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available