S8I (p.Ser8Ile) variant of NCF2 (Neutrophil cytosol factor 2)
S8I (p.Ser8Ile) 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 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S8I (p.Ser8Ile) variant details
- p.Ser8Ile
- rs368880633
- ClinGen CA33993109
- ClinVar RCV001911460
- ClinVar RCV002554354
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.31
- MetaLR 0.21
- MetaSVM -0.83
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.928
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)