K3Q (p.Lys3Gln) variant of IRAK4 (Q9NWZ3)
K3Q (p.Lys3Gln) 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 0.58 / 1. The record also includes population frequency data and structural context.
K3Q (p.Lys3Gln) variant details
- p.Lys3Gln
- rs752890848
- ClinGen CA6522259
- ClinVar RCV001877493
- ExAC rs752890848
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available