A16D (p.Ala16Asp) variant of MDM4 (Protein Mdm4)
A16D (p.Ala16Asp) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- Ensembl rs2102314152
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.07
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.209