D18M (p.Asp18Met) variant of NCF4 (Neutrophil cytosol factor 4)
D18M (p.Asp18Met) in NCF4 (Neutrophil cytosol factor 4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D18M (p.Asp18Met) variant details
- p.Asp18Met
- rs746841045
- gnomAD 22-36864062-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 0.79
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available