H9Y (p.His9Tyr) variant of TLR9 (Toll-like receptor 9)
H9Y (p.His9Tyr) 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.
H9Y (p.His9Tyr) variant details
- p.His9Tyr
- TOPMed rs202195635
- gnomAD rs202195635
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.04
- CADD 5.81
- PolyPhen-2 0.04
- SIFT 0.36
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available