Q50L (p.Gln50Leu) variant of IRAK4 (Q9NWZ3)
Q50L (p.Gln50Leu) 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 and structural context.
Q50L (p.Gln50Leu) variant details
- p.Gln50Leu
- rs752850989
- ClinGen CA6522282
- ClinVar RCV003133714
- ExAC rs752850989
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 24.40
- PolyPhen-2 0.40
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available