R26Q (p.Arg26Gln) variant of AGT (Angiotensinogen)
R26Q (p.Arg26Gln) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Renal tubular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R26Q (p.Arg26Gln) variant details
- p.Arg26Gln
- rs776421645
- ClinGen CA1448386
- ClinVar RCV001175178
- ExAC rs776421645
- Likely pathogenic
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.76
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Renal tubular dysgenesis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available