R107L (p.Arg107Leu) variant of AGT (Angiotensinogen)
R107L (p.Arg107Leu) in AGT (Angiotensinogen) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R107L (p.Arg107Leu) variant details
- p.Arg107Leu
- ExAC rs772453722
- TOPMed rs772453722
- gnomAD rs772453722
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.60
- AlphaMissense 0.31
- MetaLR 0.61
- MetaSVM 0.04
- CADD 22.60
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available