S7T (p.Ser7Thr) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
S7T (p.Ser7Thr) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- rs1411053475
- gnomAD 12-68808488-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 9.83
- PolyPhen-2 0.03
- SIFT 0.62
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.843
- Literature evidence available