D108V (p.Asp108Val) variant of NCF2 (Neutrophil cytosol factor 2)
D108V (p.Asp108Val) 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 not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
D108V (p.Asp108Val) variant details
- p.Asp108Val
- rs137854509
- ClinGen CA145217
- ClinVar RCV000059364
- ClinVar RCV001559780
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.97
- MetaLR 0.54
- MetaSVM 0.21
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.90
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Structural context available
- Cited in: Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. (PMID 18625437)
- Cited in: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide… (PMID 10498624)