M46I (p.Met46Ile) variant of NCF2 (Neutrophil cytosol factor 2)
M46I (p.Met46Ile) 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 0.30 / 1. The record also includes experimental measurements, published literature, and structural context.
M46I (p.Met46Ile) variant details
- p.Met46Ile
- rs1673575856
- ClinGen CA343684313
- ClinVar RCV001307894
- Ensembl rs1673575856
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.18
- MetaLR 0.09
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.66
- EVE 0.05
- 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 -0.546
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)