R43D (p.Arg43Asp) variant of NCF1 (Neutrophil cytosol factor 1)
R43D (p.Arg43Asp) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R43D (p.Arg43Asp) variant details
- p.Arg43Asp
- gnomAD 7-74777320-G-GGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 22.80
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.156
- Literature evidence available