D67Y (p.Asp67Tyr) variant of NCF2 (Neutrophil cytosol factor 2)
D67Y (p.Asp67Tyr) 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 0.64 / 1. The record also includes experimental measurements, published literature, and structural context.
D67Y (p.Asp67Tyr) variant details
- p.Asp67Tyr
- rs2102934452
- ClinGen CA343683409
- ClinVar RCV001367005
- Ensembl rs2102934452
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 0.98
- MetaLR 0.50
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.92
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.431
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)