R42W (p.Arg42Trp) variant of NCF1 (Neutrophil cytosol factor 1)
R42W (p.Arg42Trp) in NCF1 (Neutrophil cytosol factor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- rs782800778
- ClinGen CA4298023
- ClinVar RCV000788442
- ClinVar RCV001283823
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.82
- MetaLR 0.77
- MetaSVM 0.66
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CGD1)
- UniProt: Pathogenic (in CGD1)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.107
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)