I113V (p.Ile113Val) variant of TLR7 (Toll-like receptor 7)
I113V (p.Ile113Val) 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.
I113V (p.Ile113Val) variant details
- p.Ile113Val
- ExAC rs774725136
- gnomAD rs774725136
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0678
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.02
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available