T26I (p.Thr26Ile) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
T26I (p.Thr26Ile) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- rs772554005
- gnomAD 12-68809288-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.315
- Literature evidence available