E122D (p.Glu122Asp) variant of NCF2 (Neutrophil cytosol factor 2)
E122D (p.Glu122Asp) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E122D (p.Glu122Asp) variant details
- p.Glu122Asp
- TOPMed rs1182112229
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.35
- MetaLR 0.44
- MetaSVM 0.10
- CADD 25.60
- PolyPhen-2 0.05
- SIFT 0.15
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available