L94F (p.Leu94Phe) variant of NCF2 (Neutrophil cytosol factor 2)
L94F (p.Leu94Phe) 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 0.28 / 1. The record also includes published literature and structural context.
L94F (p.Leu94Phe) variant details
- p.Leu94Phe
- rs2102912563
- ClinGen CA343679556
- ClinVar RCV002027444
- Ensembl rs2102912563
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- AlphaMissense 0.09
- MetaLR 0.07
- MetaSVM -0.95
- PolyPhen-2 0.01
- SIFT 0.69
- EVE 0.07
- 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)