I19T (p.Ile19Thr) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
I19T (p.Ile19Thr) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- rs771046322
- gnomAD 12-68809267-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.19
- CADD 25.00
- PolyPhen-2 0.58
- SIFT 0.06
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.0373
- Literature evidence available