G34A (p.Gly34Ala) variant of NCF4 (Neutrophil cytosol factor 4)
G34A (p.Gly34Ala) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- rs766859628
- ClinGen CA10212837
- ClinVar RCV002958182
- ExAC rs766859628
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.30
- MetaLR 0.29
- MetaSVM -0.54
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)