V14I (p.Val14Ile) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
V14I (p.Val14Ile) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- rs2136105539
- gnomAD 12-68809233-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.11
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score 0.147
- Literature evidence available