E68Q (p.Glu68Gln) variant of NCF1 (Neutrophil cytosol factor 1)
E68Q (p.Glu68Gln) in NCF1 (Neutrophil cytosol factor 1) 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.
E68Q (p.Glu68Gln) variant details
- p.Glu68Gln
- gnomAD rs1554413404
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.11
- MetaLR 0.21
- MetaSVM -0.69
- CADD 16.40
- PolyPhen-2 0.04
- SIFT 0.16
- Population evidence available
- Structural context available