R74C (p.Arg74Cys) variant of TLR9 (Toll-like receptor 9)
R74C (p.Arg74Cys) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R74C (p.Arg74Cys) variant details
- p.Arg74Cys
- ExAC rs746281362
- TOPMed rs746281362
- gnomAD rs746281362
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.31
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available