R18S (p.Arg18Ser) variant of MDM4 (Protein Mdm4)
R18S (p.Arg18Ser) in MDM4 (Protein Mdm4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- Ensembl rs2102314293
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.02
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.428