K32E (p.Lys32Glu) variant of NCF4 (Neutrophil cytosol factor 4)
K32E (p.Lys32Glu) in NCF4 (Neutrophil cytosol factor 4) 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 0.40 / 1. The record also includes published literature and structural context.
K32E (p.Lys32Glu) variant details
- p.Lys32Glu
- rs2145702819
- ClinGen CA411377058
- ClinVar RCV001987513
- Ensembl rs2145702819
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.44
- MetaLR 0.23
- MetaSVM -0.62
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.29
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)