A9G (p.Ala9Gly) variant of NCF4 (Neutrophil cytosol factor 4)
A9G (p.Ala9Gly) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- rs1028485815
- ClinGen CA323981153
- ClinVar RCV003021710
- TOPMed rs1028485815
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.04
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)