K38F (p.Lys38Phe) variant of NCF1 (Neutrophil cytosol factor 1)
K38F (p.Lys38Phe) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K38F (p.Lys38Phe) variant details
- p.Lys38Phe
- gnomAD 7-74777304-A-AGTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 27.90
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0599
- Literature evidence available