A21V (p.Ala21Val) variant of MDM2 (E3 ubiquitin-protein ligase Mdm2)
A21V (p.Ala21Val) in MDM2 (E3 ubiquitin-protein ligase Mdm2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs991848363
- gnomAD 12-68809249-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.34
- SIFT 0.07
- Population evidence available
- Structural context available
- MDM2 Zinc finger, RanBP2-type domain domainome 1.0: score -1.13
- Literature evidence available