I107V (p.Ile107Val) variant of NCF2 (Neutrophil cytosol factor 2)
I107V (p.Ile107Val) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I107V (p.Ile107Val) variant details
- p.Ile107Val
- rs1672856679
- ClinGen CA343679177
- ClinVar RCV001046167
- Ensembl rs1672856679
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.37
- MetaLR 0.36
- MetaSVM -0.55
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.44
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)