E85D (p.Glu85Asp) variant of NCF2 (Neutrophil cytosol factor 2)
E85D (p.Glu85Asp) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E85D (p.Glu85Asp) variant details
- p.Glu85Asp
- TOPMed rs1457361434
- gnomAD rs1457361434
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- MetaLR 0.25
- MetaSVM -0.85
- CADD 18.50
- PolyPhen-2 0.45
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available