L14R (p.Leu14Arg) variant of IRAK4 (Q9NWZ3)
L14R (p.Leu14Arg) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD 12-43768152-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available