L54H (p.Leu54His) variant of NCF1 (Neutrophil cytosol factor 1)
L54H (p.Leu54His) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L54H (p.Leu54His) variant details
- p.Leu54His
- gnomAD 7-74778365-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0703
- CADD 3.49
- SIFT 0.04
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -1.07
- Literature evidence available