R66G (p.Arg66Gly) variant of NCF2 (Neutrophil cytosol factor 2)
R66G (p.Arg66Gly) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R66G (p.Arg66Gly) variant details
- p.Arg66Gly
- ExAC rs750782115
- TOPMed rs750782115
- gnomAD rs750782115
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.15
- MetaLR 0.18
- MetaSVM -0.79
- CADD 17.50
- PolyPhen-2 0.19
- SIFT 0.32
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.695