I51T (p.Ile51Thr) variant of AGTR1 (Type-1 angiotensin II receptor)
I51T (p.Ile51Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I51T (p.Ile51Thr) variant details
- p.Ile51Thr
- rs886058069
- ClinGen CA10617445
- ClinVar RCV000374387
- TOPMed rs886058069
- Uncertain significance
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.10
- CADD 21.90
- PolyPhen-2 0.17
- SIFT 0.11
- ClinVar: Uncertain significance (Renal tubular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available