pArg23Gly

pArg23Gly is the protein-level designation for a missense variant in which arginine at position 23 is replaced by glycine. The standard HGVS notation for this substitution is p.Arg23Gly, indicating a single amino acid change at residue 23. Such substitutions can have a range of effects that depend on the protein’s context, including involvement in catalytic activity, binding interfaces, or maintenance of local charge.

The functional consequences of p.Arg23Gly are highly context-dependent. Replacing a positively charged, relatively bulky arginine with a small, uncharged glycine can alter local structure, stability, or interactions with ligands, substrates, or partner proteins. In some cases, the change may be benign, while in others it could reduce activity, disrupt regulation, or affect protein stability. Experimental characterization or robust genetic association data are typically required to determine the actual impact.

In clinical and research settings, p.Arg23Gly may appear in variant catalogs with classifications ranging from benign to pathogenic, or as a variant of uncertain significance. Classification relies on multiple lines of evidence, including population frequency data, segregation analyses, functional assays, and in silico predictions. Databases such as ClinVar, UniProt, and HGVS-guidelines-compliant resources are commonly consulted for interpretation and context.

Because p.Arg23Gly denotes a substitution at a specific residue, its relevance is determined by the gene and protein in which it occurs. Without specifying the affected protein, p.Arg23Gly serves as a general example of a residue-23 arginine to glycine substitution and its potential implications.