V118L (p.Val118Leu) variant of AGT (Angiotensinogen)
V118L (p.Val118Leu) 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 0.13 / 1. The record also includes population frequency data and structural context.
V118L (p.Val118Leu) variant details
- p.Val118Leu
- ESP rs369425934
- ExAC rs369425934
- TOPMed rs369425934
- gnomAD rs369425934
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.19
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available