Y87H (p.Tyr87His) variant of NCF2 (Neutrophil cytosol factor 2)
Y87H (p.Tyr87His) 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 0.47 / 1. The record also includes published literature and structural context.
Y87H (p.Tyr87His) variant details
- p.Tyr87His
- rs940390623
- ClinGen CA343679739
- ClinVar RCV002824716
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.25
- MetaLR 0.37
- MetaSVM -0.47
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.49
- 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)