K58R (p.Lys58Arg) variant of NCF2 (Neutrophil cytosol factor 2)
K58R (p.Lys58Arg) 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 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K58R (p.Lys58Arg) variant details
- p.Lys58Arg
- rs2528038922
- ClinGen CA343684056
- ClinVar RCV002586633
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.25
- MetaLR 0.40
- MetaSVM -0.55
- CADD 24.20
- PolyPhen-2 0.42
- SIFT 0.08
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance (in CGD2)
- UniProt: Uncertain significance (in CGD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.614
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)