T46M (p.Thr46Met) variant of NPM1 (Nucleophosmin)
T46M (p.Thr46Met) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T46M (p.Thr46Met) variant details
- p.Thr46Met
- Ensembl rs1283447658
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.23
- CADD 25.60
- PolyPhen-2 0.46
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available