I53L (p.Ile53Leu) variant of TLR3 (Toll-like receptor 3)
I53L (p.Ile53Leu) 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 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.
I53L (p.Ile53Leu) variant details
- p.Ile53Leu
- rs1221000109
- ClinGen CA359107421
- ClinVar RCV001056449
- TOPMed rs1221000109
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.20
- MetaLR 0.15
- MetaSVM -0.76
- CADD 21.50
- PolyPhen-2 0.36
- SIFT 0.06
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available