K70Q (p.Lys70Gln) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
K70Q (p.Lys70Gln) 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 0.37 / 1. The record also includes population frequency data and structural context.
K70Q (p.Lys70Gln) variant details
- p.Lys70Gln
- rs774100788
- ClinGen CA6678599
- cosmic curated COSV50698
- ClinVar RCV001947987
- Uncertain significance
- Accelerated tumor formation, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.13
- MetaLR 0.16
- MetaSVM -0.96
- PolyPhen-2 0.99
- SIFT 0.92
- MutPred 0.42
- ClinVar: Uncertain significance (Accelerated tumor formation, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available