R18M (p.Arg18Met) variant of MDM4 (Protein Mdm4)
R18M (p.Arg18Met) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R18M (p.Arg18Met) variant details
- p.Arg18Met
- gnomAD 1-204525571-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.10
- CADD 27.10
- PolyPhen-2 0.59
- SIFT 0.00
- Population evidence available
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.428
- Literature evidence available