Description
This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 4 of the AGT protein (p.Arg4Pro). This variant is present in population databases (rs61762541, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AGT-related conditions. This variant is also known as R-30P. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AGT protein function. Experimental studies have shown that this missense change affects AGT function (PMID: 10585456). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |