I26T (p.Ile26Thr) variant of IRAK4 (Q9NWZ3)
I26T (p.Ile26Thr) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- rs138116867
- ClinGen CA6522273
- ClinVar RCV001347836
- UniProt VAR 072890
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 23.80
- PolyPhen-2 0.34
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. (PMID 24316379)