F44L (p.Phe44Leu) variant of NCF1 (Neutrophil cytosol factor 1)
F44L (p.Phe44Leu) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F44L (p.Phe44Leu) variant details
- p.Phe44Leu
- Ensembl rs2131600745
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.52
- MetaLR 0.18
- MetaSVM -0.88
- CADD 22.70
- PolyPhen-2 0.53
- SIFT 0.05
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0873