P21H (p.Pro21His) variant of MDM4 (Protein Mdm4)
P21H (p.Pro21His) in MDM4 (Protein Mdm4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- Ensembl rs2102314425
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.05
- CADD 22.60
- PolyPhen-2 0.32
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.285