C42R (p.Cys42Arg) variant of AGT (Angiotensinogen)
C42R (p.Cys42Arg) in AGT (Angiotensinogen) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- 1000Genomes rs61731497
- ESP rs61731497
- ExAC rs61731497
- TOPMed rs61731497
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.70
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available