R38W (p.Arg38Trp) variant of NCF2 (Neutrophil cytosol factor 2)
R38W (p.Arg38Trp) 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 Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- rs200824291
- ClinGen CA1285056
- cosmic curated COSV62315
- ClinVar RCV000794385
- Uncertain significance
- Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.61
- MetaLR 0.54
- MetaSVM -0.14
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Granulomatous disease, chronic, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.965
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)