T66S (p.Thr66Ser) variant of TLR8 (Toll-like receptor 8)
T66S (p.Thr66Ser) in TLR8 (Toll-like receptor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T66S (p.Thr66Ser) variant details
- p.Thr66Ser
- rs375512332
- ClinGen CA326799805
- ClinVar RCV004167106
- ESP rs375512332
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.31
- MetaLR 0.29
- MetaSVM -0.53
- CADD 23.70
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.1e-05)
- Structural context available