T49S (p.Thr49Ser) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
T49S (p.Thr49Ser) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T49S (p.Thr49Ser) variant details
- p.Thr49Ser
- rs1487823798
- gnomAD 12-68813611-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.12
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available