A97D (p.Ala97Asp) variant of NCF2 (Neutrophil cytosol factor 2)
A97D (p.Ala97Asp) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.64 / 1. The record also includes published literature and structural context.
A97D (p.Ala97Asp) variant details
- p.Ala97Asp
- rs755222977
- ClinGen CA343679471
- ClinVar RCV003989926
- ExAC rs755222977
- Conflicting interpretations
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.29
- MetaLR 0.60
- MetaSVM 0.32
- PolyPhen-2 0.85
- SIFT 0.10
- EVE 0.81
- ClinVar: Conflicting classifications of pathogenicity (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)