G49A (p.Gly49Ala) variant of NCF4 (Neutrophil cytosol factor 4)
G49A (p.Gly49Ala) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G49A (p.Gly49Ala) variant details
- p.Gly49Ala
- gnomAD rs1402948199
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.30
- MetaLR 0.19
- MetaSVM -0.82
- CADD 26.70
- PolyPhen-2 0.92
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available