H60Q (p.His60Gln) variant of TLR3 (Toll-like receptor 3)
H60Q (p.His60Gln) in TLR3 (Toll-like receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Herpes simplex encephalitis, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H60Q (p.His60Gln) variant details
- p.His60Gln
- rs780502519
- ClinGen CA3161172
- ClinVar RCV003604211
- ClinVar RCV004371669
- Uncertain significance
- not specified; Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.28
- MetaLR 0.18
- MetaSVM -0.79
- CADD 17.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Herpes simplex encephalitis, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available