R54R (p.Arg54Arg) variant of IRAK4 (Q9NWZ3)
R54R (p.Arg54Arg) in IRAK4 (Q9NWZ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R54R (p.Arg54Arg) variant details
- p.Arg54Arg
- rs772625246
- gnomAD 12-43771220-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 23.80
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available