R13G (p.Arg13Gly) variant of AGTR1 (Type-1 angiotensin II receptor)
R13G (p.Arg13Gly) 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 Renal tubular dysgenesis of genetic origin; Essential hypertension, genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- TOPMed rs1358705034
- gnomAD rs1358705034
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Essential hypertension, genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.10
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; Essential hypertensi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available