S78F (p.Ser78Phe) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
S78F (p.Ser78Phe) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S78F (p.Ser78Phe) variant details
- p.Ser78Phe
- rs1881306388
- gnomAD 12-68815668-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 7.01
- Population evidence available
- Structural context available
- Literature evidence available