D12E (p.Asp12Glu) variant of NCF4 (Neutrophil cytosol factor 4)
D12E (p.Asp12Glu) 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 and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- ExAC rs766618219
- gnomAD rs766618219
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.08
- CADD 20.70
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available