Q285H (p.Gln285His) variant of NCF2 (Neutrophil cytosol factor 2)
Q285H (p.Gln285His) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q285H (p.Gln285His) variant details
- p.Gln285His
- TOPMed rs1205752530
- gnomAD rs1205752530
- Pathogenic/Likely pathogenic
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.15
- CADD 33.00
- PolyPhen-2 0.66
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available