Q100K (p.Gln100Lys) variant of NCF2 (Neutrophil cytosol factor 2)
Q100K (p.Gln100Lys) 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 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q100K (p.Gln100Lys) variant details
- p.Gln100Lys
- rs119103276
- ClinGen CA343679384
- ClinVar RCV001886123
- 1000Genomes rs119103276
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.19
- MetaLR 0.40
- MetaSVM -0.64
- CADD 19.70
- PolyPhen-2 0.10
- SIFT 0.75
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)