A202V (p.Ala202Val) variant of NCF2 (Neutrophil cytosol factor 2)
A202V (p.Ala202Val) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Chronic granulomatous disease; Granulomatous disease, chronic, autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A202V (p.Ala202Val) variant details
- p.Ala202Val
- rs137854508
- ClinGen CA145227
- ClinVar RCV000059369
- ClinVar RCV004586536
- Pathogenic/Likely pathogenic
- Chronic granulomatous disease; Granulomatous disease, chronic, autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.64
- MetaLR 0.43
- MetaSVM -0.03
- CADD 28.80
- PolyPhen-2 0.59
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Chronic granulomatous disease; Granulomatous disease, chronic, a)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. (PMID 19624736)
- Cited in: Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. (PMID 23910690)