C17R (p.Cys17Arg) variant of MDM4 (Protein Mdm4)
C17R (p.Cys17Arg) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C17R (p.Cys17Arg) variant details
- p.Cys17Arg
- TOPMed rs1249145025
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.03
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.13