G13C (p.Gly13Cys) variant of TLR3 (Toll-like receptor 3)
G13C (p.Gly13Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD rs1470948740
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.12
- MetaLR 0.11
- MetaSVM -1.03
- CADD 18.90
- PolyPhen-2 0.62
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available