D69Y (p.Asp69Tyr) variant of TLR8 (Toll-like receptor 8)
D69Y (p.Asp69Tyr) in TLR8 (Toll-like receptor 8) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data and structural context.
D69Y (p.Asp69Tyr) variant details
- p.Asp69Tyr
- ExAC rs770624249
- TOPMed rs770624249
- gnomAD rs770624249
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.26
- MetaLR 0.18
- MetaSVM -0.57
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-06)
- Structural context available