R18R (p.Arg18Arg) variant of MDM4 (Protein Mdm4)
R18R (p.Arg18Arg) in MDM4 (Protein Mdm4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R18R (p.Arg18Arg) variant details
- p.Arg18Arg
- rs2102314293
- gnomAD 1-204525572-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 10.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.428
- Literature evidence available