Q117K (p.Gln117Lys) variant of TLR7 (Toll-like receptor 7)
Q117K (p.Gln117Lys) in TLR7 (Toll-like receptor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
Q117K (p.Gln117Lys) variant details
- p.Gln117Lys
- rs201467088
- ClinGen CA10349920
- ClinVar RCV003720793
- ClinVar RCV004266372
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.01
- MetaLR 0.00
- MetaSVM -0.89
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00097)
- Structural context available