F44H (p.Phe44His) variant of NCF1 (Neutrophil cytosol factor 1)
F44H (p.Phe44His) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F44H (p.Phe44His) variant details
- p.Phe44His
- rs1554413144
- gnomAD 7-74777323-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 26.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0873
- Literature evidence available