H30R (p.His30Arg) variant of NPM1 (Nucleophosmin)
H30R (p.His30Arg) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H30R (p.His30Arg) variant details
- p.His30Arg
- gnomAD 5-171390081-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.26
- CADD 25.00
- PolyPhen-2 0.75
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available