T56A (p.Thr56Ala) variant of TLR4 (Toll-like receptor 4)
T56A (p.Thr56Ala) in TLR4 (Toll-like receptor 4) 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 0.08 / 1. The record also includes population frequency data and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- ESP rs369153844
- TOPMed rs369153844
- gnomAD rs369153844
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0808
- REVEL 0.06
- CADD 6.43
- PolyPhen-2 0.02
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available