A2D (p.Ala2Asp) variant of NCF4 (Neutrophil cytosol factor 4)
A2D (p.Ala2Asp) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 22-36861176-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.07
- MetaLR 0.16
- MetaSVM -0.74
- CADD 22.50
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available