E14Q (p.Glu14Gln) variant of NCF4 (Neutrophil cytosol factor 4)
E14Q (p.Glu14Gln) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- gnomAD rs1939855445
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.09
- CADD 19.80
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available