N5K (p.Asn5Lys) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
N5K (p.Asn5Lys) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N5K (p.Asn5Lys) variant details
- p.Asn5Lys
- gnomAD 12-68809217-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 32.00
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.167
- Literature evidence available