G5S (p.Gly5Ser) variant of AGT (Angiotensinogen)
G5S (p.Gly5Ser) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis of genetic origin; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs377164467
- ClinGen CA1448399
- ClinVar RCV001974097
- ClinVar RCV005002744
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.19
- CADD 4.06
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available