S5F (p.Ser5Phe) variant of MDM4 (Protein Mdm4)
S5F (p.Ser5Phe) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- cosmic curated COSV65798
- Ensembl rs2102313657
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.13
- CADD 25.80
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.0715