H52D (p.His52Asp) variant of IRAK4 (Q9NWZ3)
H52D (p.His52Asp) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
H52D (p.His52Asp) variant details
- p.His52Asp
- ExAC rs758634981
- gnomAD rs758634981
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.20
- PolyPhen-2 0.08
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available