H52Q (p.His52Gln) variant of IRAK4 (Q9NWZ3)
H52Q (p.His52Gln) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H52Q (p.His52Gln) variant details
- p.His52Gln
- gnomAD 12-43768267-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 19.80
- PolyPhen-2 0.63
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available