W22R (p.Trp22Arg) variant of NCF2 (Neutrophil cytosol factor 2)
W22R (p.Trp22Arg) 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 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W22R (p.Trp22Arg) variant details
- p.Trp22Arg
- rs1673581250
- ClinGen CA343684969
- ClinVar RCV001050845
- gnomAD rs1673581250
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.80
- MetaLR 0.54
- MetaSVM 0.27
- CADD 31.00
- SIFT 0.02
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.565
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)