V28I (p.Val28Ile) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
V28I (p.Val28Ile) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V28I (p.Val28Ile) variant details
- p.Val28Ile
- rs1470334779
- gnomAD 12-68813554-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.20
- CADD 29.90
- PolyPhen-2 0.95
- SIFT 0.10
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.272
- Literature evidence available