E2D (p.Glu2Asp) variant of NPM1 (Nucleophosmin)
E2D (p.Glu2Asp) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- gnomAD 5-171387954-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available