R18K (p.Arg18Lys) variant of MDM4 (Protein Mdm4)
R18K (p.Arg18Lys) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R18K (p.Arg18Lys) variant details
- p.Arg18Lys
- gnomAD 1-204525571-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.04
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.428
- Literature evidence available