E22* (p.Glu22Ter) variant of NPM1 (Nucleophosmin)
E22* (p.Glu22Ter) in NPM1 (Nucleophosmin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E22* (p.Glu22Ter) variant details
- p.Glu22Ter
- gnomAD 5-171390056-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 40.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available