S5P (p.Ser5Pro) variant of MDM4 (Protein Mdm4)
S5P (p.Ser5Pro) in MDM4 (Protein Mdm4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 1-204525527-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 18.90
- Population evidence available
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.0715
- Literature evidence available