R14del
R14del is a genetic variation observed in the human genome. It specifically refers to a deletion of the amino acid at position 14 in a particular protein. This type of mutation, where a segment of DNA is lost, can lead to a change in the resulting protein's structure and function. The significance of R14del depends on the protein it affects and its role within the cell or organism.
When a deletion occurs, it can cause a frameshift mutation if the deleted segment is not a
The clinical relevance of R14del is determined through genetic studies and functional assays. If R14del is