D19G (p.Asp19Gly) variant of NCF4 (Neutrophil cytosol factor 4)
D19G (p.Asp19Gly) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D19G (p.Asp19Gly) variant details
- p.Asp19Gly
- gnomAD 22-36864068-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.22
- MetaLR 0.11
- MetaSVM -0.97
- CADD 23.40
- PolyPhen-2 0.30
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available