C13R (p.Cys13Arg) variant of IRAK4 (Q9NWZ3)
C13R (p.Cys13Arg) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
C13R (p.Cys13Arg) variant details
- p.Cys13Arg
- TOPMed rs1473391364
- gnomAD rs1473391364
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.75
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available