A97P (p.Ala97Pro) variant of NCF2 (Neutrophil cytosol factor 2)
A97P (p.Ala97Pro) 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 0.73 / 1. The record also includes published literature and structural context.
A97P (p.Ala97Pro) variant details
- p.Ala97Pro
- rs1558101108
- ClinGen CA343679476
- ClinVar RCV002030953
- TOPMed rs1558101108
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 0.99
- MetaLR 0.61
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.82
- 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)