F17L (p.Phe17Leu) variant of TLR3 (Toll-like receptor 3)
F17L (p.Phe17Leu) in TLR3 (Toll-like receptor 3) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- ExAC rs746697955
- TOPMed rs746697955
- gnomAD rs746697955
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.01
- CADD 8.67
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available