L60F (p.Leu60Phe) variant of IRAK4 (Q9NWZ3)
L60F (p.Leu60Phe) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L60F (p.Leu60Phe) variant details
- p.Leu60Phe
- gnomAD 12-43771236-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available