G52D (p.Gly52Asp) variant of NPM1 (Nucleophosmin)
G52D (p.Gly52Asp) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- ESP rs372208958
- TOPMed rs372208958
- gnomAD rs372208958
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.22
- CADD 23.90
- PolyPhen-2 0.34
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available