K23M (p.Lys23Met) variant of NCF2 (Neutrophil cytosol factor 2)
K23M (p.Lys23Met) 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 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K23M (p.Lys23Met) variant details
- p.Lys23Met
- rs767533151
- ClinGen CA1285066
- ClinVar RCV002766342
- ExAC rs767533151
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.28
- MetaLR 0.36
- MetaSVM -0.73
- CADD 24.50
- PolyPhen-2 0.49
- SIFT 0.10
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.86
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)