M111T (p.Met111Thr) variant of TLR7 (Toll-like receptor 7)
M111T (p.Met111Thr) 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.
M111T (p.Met111Thr) variant details
- p.Met111Thr
- rs2518437288
- ClinGen CA412404585
- ClinVar RCV003569422
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.04
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available