H40N (p.His40Asn) variant of NPM1 (Nucleophosmin)
H40N (p.His40Asn) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
H40N (p.His40Asn) variant details
- p.His40Asn
- gnomAD 5-171390110-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.35
- CADD 27.00
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available