F44I (p.Phe44Ile) variant of NCF1 (Neutrophil cytosol factor 1)
F44I (p.Phe44Ile) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F44I (p.Phe44Ile) variant details
- p.Phe44Ile
- gnomAD 7-74777324-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.75
- MetaLR 0.42
- MetaSVM -0.09
- CADD 25.40
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0873
- Literature evidence available