R65Q (p.Arg65Gln) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
R65Q (p.Arg65Gln) 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 0.36 / 1. The record also includes population frequency data and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs1385829631
- ClinGen CA385704109
- NCI-TCGA Cosmic COSV5069
- cosmic curated COSV50697
- Uncertain significance
- Accelerated tumor formation, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.94
- MetaLR 0.12
- MetaSVM -0.97
- PolyPhen-2 0.82
- SIFT 0.01
- MutPred 0.61
- ClinVar: Uncertain significance (Accelerated tumor formation, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available