D74A (p.Asp74Ala) variant of AGTR1 (Type-1 angiotensin II receptor)
D74A (p.Asp74Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D74A (p.Asp74Ala) variant details
- p.Asp74Ala
- rs748117430
- ClinGen CA2657289
- ClinVar RCV001801268
- ExAC rs748117430
- Uncertain significance
- Renal tubular dysgenesis of genetic origin
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.90
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available