A38T (p.Ala38Thr) variant of IRAK4 (Q9NWZ3)
A38T (p.Ala38Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs565544986
- ClinGen CA6522277
- ClinVar RCV002920803
- 1000Genomes rs565544986
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 18.60
- PolyPhen-2 0.08
- SIFT 0.73
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- 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)