D3E (p.Asp3Glu) variant of NPM1 (Nucleophosmin)
D3E (p.Asp3Glu) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- Ensembl rs1770334829
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.24
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available