L23Q (p.Leu23Gln) variant of NPM1 (Nucleophosmin)
L23Q (p.Leu23Gln) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L23Q (p.Leu23Gln) variant details
- p.Leu23Gln
- gnomAD 5-171390060-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.70
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available