M136V (p.Met136Val) variant of TLR9 (Toll-like receptor 9)
M136V (p.Met136Val) in TLR9 (Toll-like receptor 9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
M136V (p.Met136Val) variant details
- p.Met136Val
- rs200978876
- ClinGen CA74732695
- ClinVar RCV004087936
- ESP rs200978876
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.04
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available