E56D (p.Glu56Asp) variant of NCF1 (Neutrophil cytosol factor 1)
E56D (p.Glu56Asp) 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, experimental measurements, and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- gnomAD rs1451704941
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -1.05
- CADD 21.80
- PolyPhen-2 0.47
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.336