V8L (p.Val8Leu) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
V8L (p.Val8Leu) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- rs1390633476
- gnomAD 12-68808481-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 15.10
- PolyPhen-2 0.18
- SIFT 0.33
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -0.148
- Literature evidence available