N5S (p.Asn5Ser) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
N5S (p.Asn5Ser) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- gnomAD 12-68809219-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.167
- Literature evidence available