C17Y (p.Cys17Tyr) variant of MDM4 (Protein Mdm4)
C17Y (p.Cys17Tyr) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C17Y (p.Cys17Tyr) variant details
- p.Cys17Tyr
- Ensembl rs2102314214
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.10
- CADD 24.80
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.13