L125P (p.Leu125Pro) variant of AGT (Angiotensinogen)
L125P (p.Leu125Pro) 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 0.72 / 1. The record also includes population frequency data and structural context.
L125P (p.Leu125Pro) variant details
- p.Leu125Pro
- TOPMed rs1558288088
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.78
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available