H17Q (p.His17Gln) variant of IRAK1 (P51617)
H17Q (p.His17Gln) in IRAK1 (P51617) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H17Q (p.His17Gln) variant details
- p.His17Gln
- ExAC rs782705096
- TOPMed rs782705096
- gnomAD rs782705096
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.07
- CADD 18.40
- PolyPhen-2 0.06
- SIFT 0.21
- Most common in the East Asian population (allele frequency 5.3e-05)
- Structural context available