A120V (p.Ala120Val) variant of NCF2 (Neutrophil cytosol factor 2)
A120V (p.Ala120Val) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A120V (p.Ala120Val) variant details
- p.Ala120Val
- rs1553258487
- ClinGen CA343678763
- ClinVar RCV000553435
- Ensembl rs1553258487
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.24
- MetaLR 0.35
- MetaSVM -0.40
- CADD 26.30
- PolyPhen-2 0.73
- SIFT 0.06
- 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)