F77C (p.Phe77Cys) variant of AGTR1 (Type-1 angiotensin II receptor)
F77C (p.Phe77Cys) 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 0.74 / 1. The record also includes population frequency data and structural context.
F77C (p.Phe77Cys) variant details
- p.Phe77Cys
- ExAC rs747975618
- TOPMed rs747975618
- gnomAD rs747975618
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Essential hypertension, genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.82
- CADD 24.90
- PolyPhen-2 0.88
- SIFT 0.23
- 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 4.5e-05)
- Structural context available