A90V (p.Ala90Val) variant of NCF2 (Neutrophil cytosol factor 2)
A90V (p.Ala90Val) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- rs1439247206
- ClinGen CA343679652
- ClinVar RCV000812884
- gnomAD rs1439247206
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.63
- MetaLR 0.86
- MetaSVM 0.46
- CADD 24.30
- PolyPhen-2 0.37
- SIFT 0.68
- 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)