D11D (p.Asp11Asp) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
D11D (p.Asp11Asp) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D11D (p.Asp11Asp) variant details
- p.Asp11Asp
- rs199663735
- gnomAD 12-68809244-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 10.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score 0.0004
- Literature evidence available