L35I (p.Leu35Ile) variant of IRAK4 (Q9NWZ3)
L35I (p.Leu35Ile) 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 0.35 / 1. The record also includes population frequency data and structural context.
L35I (p.Leu35Ile) variant details
- p.Leu35Ile
- rs1423382149
- ClinGen CA384464550
- ClinVar RCV001111119
- TOPMed rs1423382149
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 15.40
- PolyPhen-2 0.04
- SIFT 0.38
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available