T16A (p.Thr16Ala) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
T16A (p.Thr16Ala) 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, experimental measurements, published literature, and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- rs1450828029
- gnomAD 12-68809239-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.11
- CADD 23.30
- PolyPhen-2 0.56
- SIFT 0.12
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.581
- Literature evidence available