R102Q (p.Arg102Gln) variant of NCF2 (Neutrophil cytosol factor 2)
R102Q (p.Arg102Gln) 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 not provided; Granulomatous disease, chronic, autosomal recessive, cytochrome b. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R102Q (p.Arg102Gln) variant details
- p.Arg102Gln
- rs137854515
- ClinGen CA1285003
- ClinVar RCV001320606
- ClinVar RCV004720854
- Uncertain significance
- not provided; Granulomatous disease, chronic, autosomal recessive, cytochrome b
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.66
- MetaLR 0.63
- MetaSVM 0.01
- CADD 24.00
- PolyPhen-2 0.18
- SIFT 0.37
- ClinVar: Uncertain significance (not provided; Granulomatous disease, chronic, autosomal recessiv)
- EBI: Variant of uncertain significance (in CGD2)
- UniProt: Uncertain significance (in CGD2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)