G49E (p.Gly49Glu) variant of NCF4 (Neutrophil cytosol factor 4)
G49E (p.Gly49Glu) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G49E (p.Gly49Glu) variant details
- p.Gly49Glu
- gnomAD 22-36864947-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.32
- MetaLR 0.22
- MetaSVM -0.75
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available