A8V (p.Ala8Val) variant of TLR4 (Toll-like receptor 4)
A8V (p.Ala8Val) in TLR4 (Toll-like receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- ExAC rs774003809
- TOPMed rs774003809
- gnomAD rs774003809
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.03
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available