T79M (p.Thr79Met) variant of TLR8 (Toll-like receptor 8)
T79M (p.Thr79Met) 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 0.31 / 1. The record also includes population frequency data and structural context.
T79M (p.Thr79Met) variant details
- p.Thr79Met
- cosmic curated COSV10635
- 1000Genomes rs201537073
- ESP rs201537073
- ExAC rs201537073
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.18
- MetaLR 0.37
- MetaSVM -0.54
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0068)
- Structural context available