A97G (p.Ala97Gly) variant of NCF2 (Neutrophil cytosol factor 2)
A97G (p.Ala97Gly) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A97G (p.Ala97Gly) variant details
- p.Ala97Gly
- rs755222977
- ClinGen CA1285009
- ClinVar RCV001326426
- ExAC rs755222977
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.64
- AlphaMissense 0.29
- MetaLR 0.60
- MetaSVM 0.32
- CADD 25.60
- PolyPhen-2 0.85
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)