A8T (p.Ala8Thr) variant of TLR4 (Toll-like receptor 4)
A8T (p.Ala8Thr) in TLR4 (Toll-like receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- cosmic curated COSV10467
- TOPMed rs200829864
- gnomAD rs200829864
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.07
- CADD 24.10
- PolyPhen-2 0.42
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available