E69A (p.Glu69Ala) variant of IRAK4 (Q9NWZ3)
E69A (p.Glu69Ala) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E69A (p.Glu69Ala) variant details
- p.Glu69Ala
- rs202134282
- ClinGen CA6522305
- ClinVar RCV001348178
- ClinVar RCV004036545
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 24.00
- PolyPhen-2 0.50
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 9.9e-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)