G17E (p.Gly17Glu) variant of IRAK4 (Q9NWZ3)
G17E (p.Gly17Glu) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Immunodeficiency 67; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- cosmic curated COSV10752
- ExAC rs778057572
- TOPMed rs778057572
- gnomAD rs778057572
- Uncertain significance
- Immunodeficiency 67; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 26.00
- PolyPhen-2 0.81
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency 67; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available