Y138C (p.Tyr138Cys) variant of AGT (Angiotensinogen)
Y138C (p.Tyr138Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y138C (p.Tyr138Cys) variant details
- p.Tyr138Cys
- 1000Genomes rs555684009
- ExAC rs555684009
- gnomAD rs555684009
- Uncertain significance
- Renal tubular dysgenesis of genetic origin
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.81
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available