F50V (p.Phe50Val) variant of NCF1 (Neutrophil cytosol factor 1)
F50V (p.Phe50Val) 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.
F50V (p.Phe50Val) variant details
- p.Phe50Val
- gnomAD 7-74777342-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.41
- MetaLR 0.46
- MetaSVM 0.09
- CADD 23.50
- PolyPhen-2 0.72
- SIFT 0.04
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.749
- Literature evidence available