I113F (p.Ile113Phe) variant of TLR7 (Toll-like receptor 7)
I113F (p.Ile113Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I113F (p.Ile113Phe) variant details
- p.Ile113Phe
- rs774725136
- ClinGen CA10349918
- ClinVar RCV003728240
- ExAC rs774725136
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0799
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -0.99
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00039)
- Structural context available