E14D (p.Glu14Asp) variant of NCF4 (Neutrophil cytosol factor 4)
E14D (p.Glu14Asp) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD rs1217111931
- Missense
- Variant Prioritization Score for Impact Estimate 0.0817
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.97
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available