R117H (p.Arg117His) variant of IRAK1 (P51617)
R117H (p.Arg117His) in IRAK1 (P51617) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R117H (p.Arg117His) variant details
- p.Arg117His
- rs782484829
- gnomAD X-154012635-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.088
- CADD 2.84
- SIFT 0.61
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available