G12R (p.Gly12Arg) variant of TLR3 (Toll-like receptor 3)
G12R (p.Gly12Arg) in TLR3 (Toll-like receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Herpes simplex encephalitis, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs199539539
- ClinGen CA3161144
- ClinVar RCV000524712
- 1000Genomes rs199539539
- Likely benign
- Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.18
- MetaLR 0.04
- MetaSVM -1.08
- CADD 0.36
- PolyPhen-2 0.07
- SIFT 0.35
- ClinVar: Likely benign (Herpes simplex encephalitis, susceptibility to, 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.015)
- Structural context available