C2F (p.Cys2Phe) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
C2F (p.Cys2Phe) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C2F (p.Cys2Phe) variant details
- p.Cys2Phe
- gnomAD 12-68809216-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.27
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.119
- Literature evidence available