L18V (p.Leu18Val) variant of NPM1 (Nucleophosmin)
L18V (p.Leu18Val) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 5-171388000-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.26
- CADD 26.20
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available