G44C (p.Gly44Cys) variant of NCF2 (Neutrophil cytosol factor 2)
G44C (p.Gly44Cys) 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 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
G44C (p.Gly44Cys) variant details
- p.Gly44Cys
- rs137854510
- ClinGen CA145209
- ClinVar RCV000059359
- ClinVar RCV000430894
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.91
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.849
- Cited in: Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). (PMID 20167518)
- Cited in: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide… (PMID 10498624)