I38T (p.Ile38Thr) variant of AGTR1 (Type-1 angiotensin II receptor)
I38T (p.Ile38Thr) in AGTR1 (Type-1 angiotensin II receptor) 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; Ren. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- rs751575775
- ClinGen CA2657277
- ClinVar RCV001149671
- ClinVar RCV002483880
- Uncertain significance
- Essential hypertension, genetic; Renal tubular dysgenesis of genetic origin; Ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.30
- CADD 25.00
- PolyPhen-2 0.95
- SIFT 0.10
- ClinVar: Uncertain significance (Essential hypertension, genetic; Renal tubular dysgenesis of gen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available