A8S (p.Ala8Ser) variant of TLR4 (Toll-like receptor 4)
A8S (p.Ala8Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
A8S (p.Ala8Ser) variant details
- p.Ala8Ser
- rs200829864
- ClinGen CA198754304
- ClinVar RCV004354519
- TOPMed rs200829864
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.49
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available