I113L (p.Ile113Leu) variant of TLR7 (Toll-like receptor 7)
I113L (p.Ile113Leu) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
I113L (p.Ile113Leu) variant details
- p.Ile113Leu
- ExAC rs774725136
- gnomAD rs774725136
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0664
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.01
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available