I18M (p.Ile18Met) variant of TLR9 (Toll-like receptor 9)
I18M (p.Ile18Met) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- rs139242193
- ClinGen CA2430888
- ClinVar RCV004264304
- ESP rs139242193
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0498
- REVEL 0.05
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available