P127L (p.Pro127Leu) variant of AGT (Angiotensinogen)
P127L (p.Pro127Leu) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Essential hypertension, genetic; Renal tubular dysgenesis of genetic origin; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P127L (p.Pro127Leu) variant details
- p.Pro127Leu
- rs1173238921
- ClinGen CA345206758
- ClinVar RCV001767313
- ClinVar RCV002488546
- Uncertain significance
- Essential hypertension, genetic; Renal tubular dysgenesis of genetic origin; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.89
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Essential hypertension, genetic; Renal tubular dysgenesis of gen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available