R29G (p.Arg29Gly) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
R29G (p.Arg29Gly) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- rs1880557549
- gnomAD 12-68808490-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 24.20
- PolyPhen-2 0.10
- SIFT 0.03
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.499
- Literature evidence available