R53* (p.Arg53Ter) variant of TLR8 (Toll-like receptor 8)
R53* (p.Arg53Ter) in TLR8 (Toll-like receptor 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R53* (p.Arg53Ter) variant details
- p.Arg53Ter
- cosmic curated COSV54318
- gnomAD rs1286007013
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available