R38Q (p.Arg38Gln) variant of NCF2 (Neutrophil cytosol factor 2)
R38Q (p.Arg38Gln) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Granulomatous disease, chronic, autosomal recessive. 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.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs147415774
- ClinGen CA1285055
- ClinVar RCV000313929
- ClinVar RCV001085219
- Conflicting interpretations
- not specified; not provided; Granulomatous disease, chronic, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.59
- MetaLR 0.53
- MetaSVM -0.28
- CADD 28.60
- PolyPhen-2 0.65
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Granulomatous disease, chronic, aut)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.965
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)