rs376837791

Description

The Y803C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y803C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a conserved position that is within the protein kinase domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, the majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014).