N49H (p.Asn49His) variant of IRAK4 (Q9NWZ3)
N49H (p.Asn49His) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N49H (p.Asn49His) variant details
- p.Asn49His
- gnomAD 12-43768256-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 23.90
- PolyPhen-2 0.73
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available