A69S (p.Ala69Ser) variant of TLR3 (Toll-like receptor 3)
A69S (p.Ala69Ser) in TLR3 (Toll-like receptor 3) 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 0.15 / 1. The record also includes population frequency data and structural context.
A69S (p.Ala69Ser) variant details
- p.Ala69Ser
- ExAC rs762922535
- TOPMed rs762922535
- gnomAD rs762922535
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.08
- MetaLR 0.17
- MetaSVM -0.96
- CADD 8.03
- PolyPhen-2 0.08
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available