R28L (p.Arg28Leu) variant of MDM4 (Protein Mdm4)
R28L (p.Arg28Leu) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- cosmic curated COSV65797
- TOPMed rs771203637
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.20
- CADD 26.90
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.311