S7S (p.Ser7Ser) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
S7S (p.Ser7Ser) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs868314073
- gnomAD 12-68808489-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 23.10
- 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