G34D (p.Gly34Asp) variant of NCF4 (Neutrophil cytosol factor 4)
G34D (p.Gly34Asp) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G34D (p.Gly34Asp) variant details
- p.Gly34Asp
- ExAC rs766859628
- TOPMed rs766859628
- gnomAD rs766859628
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.36
- MetaLR 0.25
- MetaSVM -0.72
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available