N3T (p.Asn3Thr) variant of CYBB (NADPH oxidase 2)
N3T (p.Asn3Thr) in CYBB (NADPH oxidase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Granulomatous disease, chronic, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N3T (p.Asn3Thr) variant details
- p.Asn3Thr
- rs782014879
- ClinGen CA10383624
- ClinVar RCV001322718
- ClinVar RCV001830977
- Conflicting interpretations
- Inborn genetic diseases; Granulomatous disease, chronic, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.59
- CADD 21.50
- PolyPhen-2 0.21
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Granulomatous disease, chronic, X-linke)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- 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)