R102P (p.Arg102Pro) variant of NCF2 (Neutrophil cytosol factor 2)
R102P (p.Arg102Pro) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available record places it 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R102P (p.Arg102Pro) variant details
- p.Arg102Pro
- rs137854515
- ClinGen CA145215
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10083
- not provided
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.74
- MetaLR 0.55
- MetaSVM 0.16
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.75
- ClinVar: not provided (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). (PMID 20167518)
- Cited in: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide… (PMID 10498624)