E46Q (p.Glu46Gln) variant of NCF1 (Neutrophil cytosol factor 1)
E46Q (p.Glu46Gln) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- TOPMed rs1554413145
- gnomAD rs1554413145
- Missense
- MetaLR 0.35
- MetaSVM -0.30
- SIFT 0.03
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.185