Q44E (p.Gln44Glu) variant of AGT (Angiotensinogen)
Q44E (p.Gln44Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q44E (p.Gln44Glu) variant details
- p.Gln44Glu
- ExAC rs5039
- TOPMed rs5039
- gnomAD rs5039
- Uncertain significance
- Renal tubular dysgenesis of genetic origin
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.07
- CADD 0.89
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available