A40V (p.Ala40Val) variant of MDM4 (Protein Mdm4)
A40V (p.Ala40Val) in MDM4 (Protein Mdm4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- Ensembl rs2102321850
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.21
- CADD 27.70
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available