S43P (p.Ser43Pro) variant of NPM1 (Nucleophosmin)
S43P (p.Ser43Pro) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- gnomAD 5-171390119-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.40
- CADD 31.00
- PolyPhen-2 0.46
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available