Y87N (p.Tyr87Asn) variant of NCF2 (Neutrophil cytosol factor 2)
Y87N (p.Tyr87Asn) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Y87N (p.Tyr87Asn) variant details
- p.Tyr87Asn
- rs940390623
- ClinGen CA33985411
- ClinVar RCV003065698
- TOPMed rs940390623
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.39
- AlphaMissense 0.25
- MetaLR 0.37
- MetaSVM -0.47
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)