L54V (p.Leu54Val) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
L54V (p.Leu54Val) 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 record also includes structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- rs2499133105
- ClinGen CA385704028
- ClinVar RCV003629790
- Uncertain significance
- Accelerated tumor formation, susceptibility to
- Missense
- ClinVar: Uncertain significance (Accelerated tumor formation, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available