F56L (p.Phe56Leu) variant of IRAK4 (Q9NWZ3)
F56L (p.Phe56Leu) in IRAK4 (Q9NWZ3) is a missense change. 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.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- gnomAD 12-43771224-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 24.50
- PolyPhen-2 0.30
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available