N104S (p.Asn104Ser) variant of NCF2 (Neutrophil cytosol factor 2)
N104S (p.Asn104Ser) 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 0.56 / 1. The record also includes published literature and structural context.
N104S (p.Asn104Ser) variant details
- p.Asn104Ser
- rs2102912424
- ClinGen CA343679263
- ClinVar RCV002041372
- Ensembl rs2102912424
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.40
- MetaLR 0.47
- MetaSVM -0.20
- PolyPhen-2 0.79
- SIFT 0.06
- EVE 0.84
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)