N5H (p.Asn5His) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
N5H (p.Asn5His) 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.
N5H (p.Asn5His) variant details
- p.Asn5His
- gnomAD 12-68809218-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.12
- CADD 28.50
- PolyPhen-2 0.80
- SIFT 0.00
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.167
- Literature evidence available