I18V (p.Ile18Val) variant of TLR8 (Toll-like receptor 8)
I18V (p.Ile18Val) in TLR8 (Toll-like receptor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. 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.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- rs151096932
- ClinGen CA10350169
- ClinVar RCV000915949
- ClinVar RCV004029391
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0691
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.02
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.013)
- Structural context available