T36I (p.Thr36Ile) variant of NCF4 (Neutrophil cytosol factor 4)
T36I (p.Thr36Ile) in NCF4 (Neutrophil cytosol factor 4) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T36I (p.Thr36Ile) variant details
- p.Thr36Ile
- rs1939860402
- ClinGen CA411377209
- ClinVar RCV002636090
- ClinVar RCV004827896
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.05
- CADD 20.60
- PolyPhen-2 0.05
- SIFT 0.65
- 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
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)