Y46* (p.Tyr46Ter) variant of TLR4 (Toll-like receptor 4)
Y46* (p.Tyr46Ter) in TLR4 (Toll-like receptor 4) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Y46* (p.Tyr46Ter) variant details
- p.Tyr46Ter
- NCI-TCGA Cosmic COSV6292
- cosmic curated COSV62922
- Ensembl rs1829177303
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.867
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available