G49R (p.Gly49Arg) variant of NCF4 (Neutrophil cytosol factor 4)
G49R (p.Gly49Arg) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- rs148715332
- ClinGen CA10212875
- ClinVar RCV000818749
- 1000Genomes rs148715332
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.38
- MetaLR 0.25
- MetaSVM -0.53
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)