E22G (p.Glu22Gly) variant of NPM1 (Nucleophosmin)
E22G (p.Glu22Gly) 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.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- gnomAD 5-171390057-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.37
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available