E37K (p.Glu37Lys) variant of NPM1 (Nucleophosmin)
E37K (p.Glu37Lys) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- gnomAD 5-171390101-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.26
- CADD 34.00
- PolyPhen-2 0.96
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available