R5H (p.Arg5His) variant of TLR9 (Toll-like receptor 9)
R5H (p.Arg5His) 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 0.07 / 1. The record also includes population frequency data and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- rs199759037
- ClinGen CA2430896
- NCI-TCGA Cosmic COSV5972
- ClinVar RCV004229038
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0674
- REVEL 0.06
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs5743842)
- UniProt: Uncertain significance (in dbSNP:rs5743842)
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available