G103R (p.Gly103Arg) variant of NCF2 (Neutrophil cytosol factor 2)
G103R (p.Gly103Arg) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G103R (p.Gly103Arg) variant details
- p.Gly103Arg
- ExAC rs768193963
- TOPMed rs768193963
- gnomAD rs768193963
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.63
- MetaLR 0.60
- MetaSVM 0.45
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available