S20F (p.Ser20Phe) variant of MDM4 (Protein Mdm4)
S20F (p.Ser20Phe) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- cosmic curated COSV65797
- ExAC rs779696576
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.04
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score 0.117