R54G (p.Arg54Gly) variant of IRAK4 (Q9NWZ3)
R54G (p.Arg54Gly) in IRAK4 (Q9NWZ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- gnomAD 12-43768271-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 33.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available