L60H (p.Leu60His) variant of IRAK4 (Q9NWZ3)
L60H (p.Leu60His) 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.
L60H (p.Leu60His) variant details
- p.Leu60His
- gnomAD 12-43771237-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 22.90
- PolyPhen-2 0.34
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available