M136L (p.Met136Leu) variant of TLR9 (Toll-like receptor 9)
M136L (p.Met136Leu) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
M136L (p.Met136Leu) variant details
- p.Met136Leu
- ESP rs200978876
- ExAC rs200978876
- TOPMed rs200978876
- gnomAD rs200978876
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.03
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available