R12P (p.Arg12Pro) variant of IRAK4 (Q9NWZ3)
R12P (p.Arg12Pro) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- gnomAD 12-43768146-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available