T66A (p.Thr66Ala) variant of TLR8 (Toll-like receptor 8)
T66A (p.Thr66Ala) 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 0.34 / 1. The record also includes population frequency data and structural context.
T66A (p.Thr66Ala) variant details
- p.Thr66Ala
- rs375512332
- ClinGen CA10350188
- ClinVar RCV004472447
- ESP rs375512332
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.27
- MetaLR 0.25
- MetaSVM -0.66
- CADD 23.90
- PolyPhen-2 0.72
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00043)
- Structural context available