V27L (p.Val27Leu) variant of MDM4 (Protein Mdm4)
V27L (p.Val27Leu) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V27L (p.Val27Leu) variant details
- p.Val27Leu
- Ensembl rs2102321116
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.31
- CADD 33.00
- PolyPhen-2 0.81
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- MDM4 Zinc finger, RanBP2-type domain domainome 1.0: score -0.249