P30S (p.Pro30Ser) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
P30S (p.Pro30Ser) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- gnomAD 12-68809269-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.11
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.34
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available