N25S (p.Asn25Ser) variant of NCF4 (Neutrophil cytosol factor 4)
N25S (p.Asn25Ser) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N25S (p.Asn25Ser) variant details
- p.Asn25Ser
- rs573525247
- ClinGen CA10212823
- ClinVar RCV001923369
- ClinVar RCV005443462
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.03
- CADD 22.10
- PolyPhen-2 0.10
- SIFT 0.20
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)