Y56F (p.Tyr56Phe) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
Y56F (p.Tyr56Phe) 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 0.41 / 1. The record also includes structural context.
Y56F (p.Tyr56Phe) variant details
- p.Tyr56Phe
- rs2136121383
- ClinGen CA385704045
- cosmic curated COSV50700
- ClinVar RCV001895953
- Uncertain significance
- Accelerated tumor formation, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.13
- MetaLR 0.35
- MetaSVM -0.41
- PolyPhen-2 0.50
- SIFT 0.05
- MutPred 0.62
- ClinVar: Uncertain significance (Accelerated tumor formation, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available