E44D (p.Glu44Asp) variant of NCF4 (Neutrophil cytosol factor 4)
E44D (p.Glu44Asp) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- ExAC rs754759226
- gnomAD rs754759226
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.25
- MetaLR 0.25
- MetaSVM -0.61
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available