V47F (p.Val47Phe) variant of NPM1 (Nucleophosmin)
V47F (p.Val47Phe) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V47F (p.Val47Phe) variant details
- p.Val47Phe
- cosmic curated COSV99744
- Ensembl rs2113167808
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.42
- CADD 34.00
- PolyPhen-2 0.80
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available