T59N (p.Thr59Asn) variant of TLR3 (Toll-like receptor 3)
T59N (p.Thr59Asn) 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 Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral in. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T59N (p.Thr59Asn) variant details
- p.Thr59Asn
- rs143307508
- ClinGen CA3161170
- ClinVar RCV000690308
- ClinVar RCV002499225
- Uncertain significance
- Susceptibility to HIV infection; Immunodeficiency 83, susceptibility to viral in
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.13
- MetaLR 0.12
- MetaSVM -0.91
- CADD 22.40
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (Susceptibility to HIV infection; Immunodeficiency 83, susceptibi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available