S24F (p.Ser24Phe) variant of TLR3 (Toll-like receptor 3)
S24F (p.Ser24Phe) in TLR3 (Toll-like receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Herpes simplex encephalitis, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- rs772953712
- ClinGen CA3161158
- ClinVar RCV000801422
- ClinVar RCV004792488
- Uncertain significance
- not provided; Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.21
- MetaLR 0.12
- MetaSVM -0.94
- CADD 9.74
- PolyPhen-2 0.30
- SIFT 0.10
- ClinVar: Uncertain significance (not provided; Herpes simplex encephalitis, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available