D11G (p.Asp11Gly) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
D11G (p.Asp11Gly) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D11G (p.Asp11Gly) variant details
- p.Asp11Gly
- rs746284240
- gnomAD 12-68809243-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.10
- CADD 25.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score 0.0004
- Literature evidence available