V47V (p.Val47Val) variant of NPM1 (Nucleophosmin)
V47V (p.Val47Val) in NPM1 (Nucleophosmin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V47V (p.Val47Val) variant details
- p.Val47Val
- rs771256760
- gnomAD 5-171391307-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 17.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available