H40Q (p.His40Gln) variant of NPM1 (Nucleophosmin)
H40Q (p.His40Gln) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H40Q (p.His40Gln) variant details
- p.His40Gln
- gnomAD 5-171390112-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- CADD 24.70
- PolyPhen-2 0.55
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available