A43P (p.Ala43Pro) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
A43P (p.Ala43Pro) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A43P (p.Ala43Pro) variant details
- p.Ala43Pro
- gnomAD 12-68815673-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 6.78
- Most common in the Non-Finnish European population (allele frequency 7.3e-06)
- Structural context available
- Literature evidence available