P42L (p.Pro42Leu) variant of IRAK4 (Q9NWZ3)
P42L (p.Pro42Leu) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- gnomAD 12-43768236-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 23.70
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available