G52A (p.Gly52Ala) variant of NPM1 (Nucleophosmin)
G52A (p.Gly52Ala) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G52A (p.Gly52Ala) variant details
- p.Gly52Ala
- ESP rs372208958
- TOPMed rs372208958
- gnomAD rs372208958
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.25
- CADD 25.10
- PolyPhen-2 0.65
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available