V118M (p.Val118Met) variant of AGT (Angiotensinogen)
V118M (p.Val118Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V118M (p.Val118Met) variant details
- p.Val118Met
- ESP rs369425934
- ExAC rs369425934
- TOPMed rs369425934
- gnomAD rs369425934
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.19
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available