N57K (p.Asn57Lys) variant of TLR3 (Toll-like receptor 3)
N57K (p.Asn57Lys) 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 Herpes simplex encephalitis, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N57K (p.Asn57Lys) variant details
- p.Asn57Lys
- ESP rs376119293
- TOPMed rs376119293
- gnomAD rs376119293
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.18
- MetaLR 0.13
- MetaSVM -0.89
- CADD 17.50
- PolyPhen-2 0.40
- SIFT 0.07
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 1)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available