I108R (p.Ile108Arg) variant of AGT (Angiotensinogen)
I108R (p.Ile108Arg) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of AGT-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I108R (p.Ile108Arg) variant details
- p.Ile108Arg
- rs199864970
- ClinGen CA38871950
- ClinVar RCV003402941
- Ensembl rs199864970
- Uncertain significance
- AGT-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.63
- CADD 24.40
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (AGT-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available