A71S (p.Ala71Ser) variant of NCF2 (Neutrophil cytosol factor 2)
A71S (p.Ala71Ser) 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 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A71S (p.Ala71Ser) variant details
- p.Ala71Ser
- rs2102934403
- ClinGen CA343683320
- ClinVar RCV001997319
- Ensembl rs2102934403
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- MetaLR 0.43
- MetaSVM -0.19
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.11
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.615
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)