T16I (p.Thr16Ile) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
T16I (p.Thr16Ile) 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.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- rs1880642775
- gnomAD 12-68809240-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.23
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.581
- Literature evidence available