S7N (p.Ser7Asn) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
S7N (p.Ser7Asn) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- rs1411053475
- gnomAD 12-68808488-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 13.10
- PolyPhen-2 0.05
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.843
- Literature evidence available