E68D (p.Glu68Asp) variant of NCF1 (Neutrophil cytosol factor 1)
E68D (p.Glu68Asp) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E68D (p.Glu68Asp) variant details
- p.Glu68Asp
- 1000Genomes rs782629025
- ExAC rs782629025
- gnomAD rs782629025
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.10
- MetaLR 0.21
- MetaSVM -0.88
- CADD 19.10
- PolyPhen-2 0.10
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available