R66Q (p.Arg66Gln) variant of NCF2 (Neutrophil cytosol factor 2)
R66Q (p.Arg66Gln) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R66Q (p.Arg66Gln) variant details
- p.Arg66Gln
- rs142803799
- ClinGen CA1285030
- cosmic curated COSV62315
- ClinVar RCV000933372
- Conflicting interpretations
- Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.03
- MetaLR 0.10
- MetaSVM -1.03
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Granulomatous disease, chronic, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.695
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)