Q5R (p.Gln5Arg) variant of NCF4 (Neutrophil cytosol factor 4)
Q5R (p.Gln5Arg) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- gnomAD 22-36861185-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.02
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available