L42S (p.Leu42Ser) variant of NPM1 (Nucleophosmin)
L42S (p.Leu42Ser) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L42S (p.Leu42Ser) variant details
- p.Leu42Ser
- cosmic curated COSV51545
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available