K54R (p.Lys54Arg) variant of NPM1 (Nucleophosmin)
K54R (p.Lys54Arg) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K54R (p.Lys54Arg) variant details
- p.Lys54Arg
- cosmic curated COSV51572
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.33
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available