S37R (p.Ser37Arg) variant of NCF4 (Neutrophil cytosol factor 4)
S37R (p.Ser37Arg) in NCF4 (Neutrophil cytosol factor 4) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- rs1939860899
- ClinGen CA411377241
- ClinVar RCV001325907
- NCI-TCGA TCGA novel
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.25
- MetaLR 0.11
- MetaSVM -1.02
- CADD 19.00
- PolyPhen-2 0.89
- SIFT 0.27
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)