Y82N (p.Tyr82Asn) variant of NCF2 (Neutrophil cytosol factor 2)
Y82N (p.Tyr82Asn) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Y82N (p.Tyr82Asn) variant details
- p.Tyr82Asn
- rs201003183
- ClinGen CA1285022
- ClinVar RCV000809135
- ClinVar RCV002538047
- Uncertain significance
- Inborn genetic diseases; Granulomatous disease, chronic, autosomal recessive, cy
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.23
- MetaLR 0.23
- MetaSVM -0.83
- CADD 23.60
- PolyPhen-2 0.80
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases; Granulomatous disease, chronic, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)