R185S (p.Arg185Ser) variant of TLR9 (Toll-like receptor 9)
R185S (p.Arg185Ser) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Meniere disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R185S (p.Arg185Ser) variant details
- p.Arg185Ser
- ExAC rs756098803
- TOPMed rs756098803
- gnomAD rs756098803
- Uncertain significance
- Meniere disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.17
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Meniere disease)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available