T128A (p.Thr128Ala) variant of AGT (Angiotensinogen)
T128A (p.Thr128Ala) 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 0.15 / 1. The record also includes population frequency data and structural context.
T128A (p.Thr128Ala) variant details
- p.Thr128Ala
- rs138340265
- ClinGen CA1448310
- ClinVar RCV003073758
- ClinVar RCV005019600
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.18
- CADD 8.30
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs34829218)
- UniProt: Uncertain significance (in dbSNP:rs34829218)
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available