R29K (p.Arg29Lys) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
R29K (p.Arg29Lys) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- rs1330733959
- gnomAD 12-68813558-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.10
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.499
- Literature evidence available