E16K (p.Glu16Lys) variant of IRF8 (Interferon regulatory factor 8)
E16K (p.Glu16Lys) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 32B; Mendelian susceptibility to mycob. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs1347366121
- ClinGen CA397000143
- ClinVar RCV003790283
- ClinVar RCV006368605
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 32B; Mendelian susceptibility to mycob
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 32B; Mendelian suscept)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)