V45E (p.Val45Glu) variant of NCF4 (Neutrophil cytosol factor 4)
V45E (p.Val45Glu) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V45E (p.Val45Glu) variant details
- p.Val45Glu
- gnomAD 22-36864935-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.68
- MetaLR 0.44
- MetaSVM 0.05
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available