A129S (p.Ala129Ser) variant of AGT (Angiotensinogen)
A129S (p.Ala129Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
A129S (p.Ala129Ser) variant details
- p.Ala129Ser
- 1000Genomes rs61762539
- ExAC rs61762539
- TOPMed rs61762539
- gnomAD rs61762539
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- CADD 1.41
- PolyPhen-2 0.05
- SIFT 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available