S17F (p.Ser17Phe) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
S17F (p.Ser17Phe) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- rs781195441
- gnomAD 12-68809231-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.15
- CADD 28.70
- PolyPhen-2 0.76
- SIFT 0.05
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.275
- Literature evidence available