D160V (p.Asp160Val) variant of NCF2 (Neutrophil cytosol factor 2)
D160V (p.Asp160Val) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant 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 0.55 / 1. The record also includes published literature and structural context.
D160V (p.Asp160Val) variant details
- p.Asp160Val
- rs267606912
- ClinVar RCV000002328
- Ensembl rs267606912
- no classification for the single variant
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.32
- MetaLR 0.47
- MetaSVM 0.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. (PMID 9070911)
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)