T10I (p.Thr10Ile) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
T10I (p.Thr10Ile) 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, and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- cosmic curated COSV50699
- TOPMed rs1880642775
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.0373