L12L (p.Leu12Leu) variant of NPM1 (Nucleophosmin)
L12L (p.Leu12Leu) in NPM1 (Nucleophosmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs935491400
- gnomAD 5-171387982-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 14.20
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Literature evidence available