Q5* (p.Gln5Ter) variant of NCF4 (Neutrophil cytosol factor 4)
Q5* (p.Gln5Ter) in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- TOPMed rs1204019451
- gnomAD rs1204019451
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 38.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available