E39D (p.Glu39Asp) variant of NPM1 (Nucleophosmin)
E39D (p.Glu39Asp) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E39D (p.Glu39Asp) variant details
- p.Glu39Asp
- gnomAD 5-171390109-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.19
- CADD 20.60
- PolyPhen-2 0.10
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available