I74M (p.Ile74Met) variant of TLR7 (Toll-like receptor 7)
I74M (p.Ile74Met) in TLR7 (Toll-like receptor 7) 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 0.25 / 1. The record also includes population frequency data and structural context.
I74M (p.Ile74Met) variant details
- p.Ile74Met
- rs2518437179
- ClinGen CA412404333
- ClinVar RCV003668812
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.28
- MetaLR 0.17
- MetaSVM -0.85
- CADD 16.00
- PolyPhen-2 0.91
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.5e-05)
- Structural context available