F41Y (p.Phe41Tyr) variant of NCF4 (Neutrophil cytosol factor 4)
F41Y (p.Phe41Tyr) in NCF4 (Neutrophil cytosol factor 4) 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 0.32 / 1. The record also includes published literature and structural context.
F41Y (p.Phe41Tyr) variant details
- p.Phe41Tyr
- rs1601547189
- ClinGen CA411378599
- ClinVar RCV000795993
- Ensembl rs1601547189
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.46
- MetaLR 0.06
- MetaSVM -1.11
- PolyPhen-2 1.00
- SIFT 0.58
- EVE 0.21
- 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)