L54F (p.Leu54Phe) variant of NCF1 (Neutrophil cytosol factor 1)
L54F (p.Leu54Phe) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- gnomAD 7-74778364-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 2.42
- SIFT 0.11
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -1.07
- Literature evidence available