E56* (p.Glu56Ter) variant of TLR8 (Toll-like receptor 8)
E56* (p.Glu56Ter) in TLR8 (Toll-like receptor 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E56* (p.Glu56Ter) variant details
- p.Glu56Ter
- gnomAD X-12919206-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.426
- CADD 34.00
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available