V21L (p.Val21Leu) variant of TLR4 (Toll-like receptor 4)
V21L (p.Val21Leu) 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 0.10 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- 1000Genomes rs112840323
- ESP rs112840323
- ExAC rs112840323
- TOPMed rs112840323
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.01
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available