T54K (p.Thr54Lys) variant of TLR3 (Toll-like receptor 3)
T54K (p.Thr54Lys) in TLR3 (Toll-like receptor 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; Herpes simplex encephalitis, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T54K (p.Thr54Lys) variant details
- p.Thr54Lys
- ExAC rs751015522
- TOPMed rs751015522
- gnomAD rs751015522
- Uncertain significance
- not specified; Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- MetaLR 0.10
- MetaSVM -1.00
- CADD 18.00
- PolyPhen-2 0.38
- SIFT 0.12
- ClinVar: Uncertain significance (not specified; Herpes simplex encephalitis, susceptibility to, 1)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available