E23K (p.Glu23Lys) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
E23K (p.Glu23Lys) 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 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.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs1361311287
- ClinGen CA385702983
- cosmic curated COSV50699
- ClinVar RCV001894478
- Uncertain significance
- Accelerated tumor formation, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.20
- MetaLR 0.33
- MetaSVM -0.30
- PolyPhen-2 0.92
- SIFT 0.10
- MutPred 0.28
- ClinVar: Uncertain significance (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 -0.373