N65S (p.Asn65Ser) variant of NCF2 (Neutrophil cytosol factor 2)
N65S (p.Asn65Ser) 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 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N65S (p.Asn65Ser) variant details
- p.Asn65Ser
- rs778546412
- ClinGen CA1285034
- ClinVar RCV000801293
- ExAC rs778546412
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.03
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.792
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)