G10R (p.Gly10Arg) variant of AGTR1 (Type-1 angiotensin II receptor)
G10R (p.Gly10Arg) in AGTR1 (Type-1 angiotensin II receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- 1000Genomes rs201574073
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.12
- CADD 18.00
- PolyPhen-2 0.06
- SIFT 0.47
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available