Y46C (p.Tyr46Cys) variant of TLR4 (Toll-like receptor 4)
Y46C (p.Tyr46Cys) in TLR4 (Toll-like receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Y46C (p.Tyr46Cys) variant details
- p.Tyr46Cys
- rs78848399
- ClinVar RCV004585277
- 1000Genomes rs78848399
- ESP rs78848399
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.74
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available