E22V (p.Glu22Val) variant of NPM1 (Nucleophosmin)
E22V (p.Glu22Val) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E22V (p.Glu22Val) variant details
- p.Glu22Val
- gnomAD rs1770493441
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.35
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available