A59T (p.Ala59Thr) variant of NCF2 (Neutrophil cytosol factor 2)
A59T (p.Ala59Thr) 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 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A59T (p.Ala59Thr) variant details
- p.Ala59Thr
- rs545984071
- ClinGen CA1285036
- ClinVar RCV001907238
- 1000Genomes rs545984071
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.33
- MetaLR 0.45
- MetaSVM -0.02
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.16
- 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 PB1 domain domainome 1.0: score -0.751
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)