I7M (p.Ile7Met) variant of NCF2 (Neutrophil cytosol factor 2)
I7M (p.Ile7Met) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I7M (p.Ile7Met) variant details
- p.Ile7Met
- rs995270345
- ClinGen CA33993122
- ClinVar RCV000791651
- TOPMed rs995270345
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.40
- MetaLR 0.39
- MetaSVM -0.62
- CADD 22.80
- PolyPhen-2 0.58
- SIFT 0.10
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -1.04
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)