R18G (p.Arg18Gly) variant of MDM4 (Protein Mdm4)
R18G (p.Arg18Gly) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- Ensembl rs754269993
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.06
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.428