A128V (p.Ala128Val) variant of NCF2 (Neutrophil cytosol factor 2)
A128V (p.Ala128Val) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chronic granulomatous disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A128V (p.Ala128Val) variant details
- p.Ala128Val
- rs119103274
- ClinGen CA115433
- ClinVar RCV000002334
- UniProt VAR 017389
- Likely pathogenic
- Chronic granulomatous disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.83
- MetaLR 0.66
- MetaSVM 0.51
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.07
- ClinVar: Likely pathogenic (Chronic granulomatous disease)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox… (PMID 10598813)
- Cited in: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide… (PMID 10498624)