G42R (p.Gly42Arg) variant of AGTR1 (Type-1 angiotensin II receptor)
G42R (p.Gly42Arg) 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 0.75 / 1. The record also includes population frequency data and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- ESP rs374930715
- TOPMed rs374930715
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.70
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available