R74H (p.Arg74His) variant of TLR9 (Toll-like receptor 9)
R74H (p.Arg74His) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R74H (p.Arg74His) variant details
- p.Arg74His
- rs781684117
- ClinGen CA2430860
- ClinVar RCV004472457
- ExAC rs781684117
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.08
- CADD 18.90
- PolyPhen-2 0.23
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available