V21M (p.Val21Met) variant of TLR4 (Toll-like receptor 4)
V21M (p.Val21Met) 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 0.21 / 1. The record also includes population frequency data and structural context.
V21M (p.Val21Met) variant details
- p.Val21Met
- rs112840323
- ClinGen CA5212137
- ClinVar RCV004242324
- 1000Genomes rs112840323
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.15
- CADD 20.60
- PolyPhen-2 0.32
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00094)
- Structural context available