K161E (p.Lys161Glu) variant of NCF2 (Neutrophil cytosol factor 2)
K161E (p.Lys161Glu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant 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 0.37 / 1. The record also includes published literature and structural context.
K161E (p.Lys161Glu) variant details
- p.Lys161Glu
- rs137878529
- ClinVar RCV000002328
- TOPMed rs137878529
- gnomAD rs137878529
- no classification for the single variant
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- AlphaMissense 0.14
- MetaLR 0.22
- MetaSVM -0.77
- PolyPhen-2 0.21
- SIFT 0.13
- EVE 0.34
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. (PMID 9070911)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)