R29S (p.Arg29Ser) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
R29S (p.Arg29Ser) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- gnomAD 12-68809208-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 25.40
- PolyPhen-2 0.10
- SIFT 0.22
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.499
- Literature evidence available