S7R (p.Ser7Arg) variant of AGT (Angiotensinogen)
S7R (p.Ser7Arg) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Renal tubular dysgenesis of genetic origin. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- ESP rs141762950
- ExAC rs141762950
- TOPMed rs141762950
- gnomAD rs141762950
- Uncertain significance
- Inborn genetic diseases; Renal tubular dysgenesis of genetic origin
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.15
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; Renal tubular dysgenesis of genetic ori)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available