E49* (p.Glu49Ter) variant of NCF1 (Neutrophil cytosol factor 1)
E49* (p.Glu49Ter) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E49* (p.Glu49Ter) variant details
- p.Glu49Ter
- gnomAD 7-74777339-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.837
- CADD 35.00
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.834
- Literature evidence available