E39G (p.Glu39Gly) variant of NPM1 (Nucleophosmin)
E39G (p.Glu39Gly) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- gnomAD 5-171390108-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.38
- CADD 27.70
- PolyPhen-2 0.15
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available