M4I (p.Met4Ile) variant of TLR8 (Toll-like receptor 8)
M4I (p.Met4Ile) in TLR8 (Toll-like receptor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
M4I (p.Met4Ile) variant details
- p.Met4Ile
- rs1397585074
- gnomAD rs1397585074
- ClinGen CA412412434
- ClinVar RCV003993361
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.00
- CADD 18.60
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available