H30N (p.His30Asn) variant of NPM1 (Nucleophosmin)
H30N (p.His30Asn) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H30N (p.His30Asn) variant details
- p.His30Asn
- Ensembl rs1770494180
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.20
- CADD 23.50
- PolyPhen-2 0.19
- SIFT 0.06
- Most common in the East Asian population (allele frequency 5.7e-05)
- Structural context available