M1T (p.Met1Thr) variant of NCF2 (Neutrophil cytosol factor 2)
M1T (p.Met1Thr) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The record also includes experimental measurements, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2528040305
- ClinGen CA343685509
- ClinVar RCV003498798
- Pathogenic
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- ClinVar: Pathogenic (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.571
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)