E48Q (p.Glu48Gln) variant of TLR8 (Toll-like receptor 8)
E48Q (p.Glu48Gln) in TLR8 (Toll-like receptor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E48Q (p.Glu48Gln) variant details
- p.Glu48Gln
- 1000Genomes rs191299747
- ExAC rs191299747
- gnomAD rs191299747
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -0.97
- CADD 18.10
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the 1KG:FIN population (allele frequency 0.0063)
- Structural context available