E25Q (p.Glu25Gln) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
E25Q (p.Glu25Gln) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Accelerated tumor formation, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E25Q (p.Glu25Gln) variant details
- p.Glu25Gln
- rs1246173207
- ClinGen CA385703000
- ClinVar RCV001894316
- ClinVar RCV004641713
- Uncertain significance
- not specified; Accelerated tumor formation, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.28
- MetaLR 0.28
- MetaSVM -0.75
- PolyPhen-2 1.00
- SIFT 0.24
- MutPred 0.29
- ClinVar: Uncertain significance (not specified; Accelerated tumor formation, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score 0.204