K40R (p.Lys40Arg) variant of IRAK4 (Q9NWZ3)
K40R (p.Lys40Arg) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- gnomAD 12-43768230-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available