C37R (p.Cys37Arg) variant of TLR3 (Toll-like receptor 3)
C37R (p.Cys37Arg) 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 Immunodeficiency 83, susceptibility to viral infections; Herpes simplex encephal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
C37R (p.Cys37Arg) variant details
- p.Cys37Arg
- rs752889035
- ClinGen CA3161161
- ClinVar RCV001228863
- ClinVar RCV005394844
- Uncertain significance
- Immunodeficiency 83, susceptibility to viral infections; Herpes simplex encephal
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.75
- MetaLR 0.53
- MetaSVM 0.27
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 83, susceptibility to viral infections; Herpes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available