F50I (p.Phe50Ile) variant of NCF1 (Neutrophil cytosol factor 1)
F50I (p.Phe50Ile) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F50I (p.Phe50Ile) variant details
- p.Phe50Ile
- gnomAD 7-74777342-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.42
- MetaLR 0.46
- MetaSVM 0.09
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.749
- Literature evidence available