V30G (p.Val30Gly) variant of TLR3 (Toll-like receptor 3)
V30G (p.Val30Gly) 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 Herpes simplex encephalitis, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V30G (p.Val30Gly) variant details
- p.Val30Gly
- rs929907117
- ClinGen CA112539628
- ClinVar RCV003873093
- TOPMed rs929907117
- Uncertain significance
- Herpes simplex encephalitis, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.34
- MetaLR 0.11
- MetaSVM -1.03
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Herpes simplex encephalitis, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available