M2I (p.Met2Ile) variant of TLR4 (Toll-like receptor 4)
M2I (p.Met2Ile) 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 Lung adenocarcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- rs1005484206
- Ensembl rs1005484206
- ClinGen CA374652837
- ClinVar RCV003129691
- Uncertain significance
- Lung adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.15
- MetaLR 0.05
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.24
- MutPred 0.42
- ClinVar: Uncertain significance (Lung adenocarcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)
- Cited in: Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean… (PMID 24627688)