All reported pathogenic mutations to date affect single amino acids (missense or in-frame deletion,) and affect GTP-binding residues. One VUS loss-of-function variant has also been reported. Most single amino acid variants have been shown to alter GTPase activity and/or downstream effector binding. Additional variants and their interpretations have also been deposited to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/?term=RALA%5Bgene%5D&redir=gene).
RALA