R45I (p.Arg45Ile) variant of NPM1 (Nucleophosmin)
R45I (p.Arg45Ile) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R45I (p.Arg45Ile) variant details
- p.Arg45Ile
- gnomAD 5-171390126-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.41
- CADD 33.00
- PolyPhen-2 0.77
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available