A17T (p.Ala17Thr) variant of NCF2 (Neutrophil cytosol factor 2)
A17T (p.Ala17Thr) 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 Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs758057222
- ClinGen CA1285071
- ClinVar RCV000642278
- ClinVar RCV005672443
- Uncertain significance
- Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.45
- MetaLR 0.52
- MetaSVM 0.04
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases; Granulomatous disease, chronic, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.191
- 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)