I29L (p.Ile29Leu) variant of NCF4 (Neutrophil cytosol factor 4)
I29L (p.Ile29Leu) 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.
I29L (p.Ile29Leu) variant details
- p.Ile29Leu
- rs1939858000
- ClinGen CA411376977
- ClinVar RCV002016036
- TOPMed rs1939858000
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.78
- SIFT 0.12
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)