M57T (p.Met57Thr) variant of AGTR1 (Type-1 angiotensin II receptor)
M57T (p.Met57Thr) 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 0.41 / 1. The record also includes population frequency data and structural context.
M57T (p.Met57Thr) variant details
- p.Met57Thr
- rs758161051
- ClinGen CA2657284
- ClinVar RCV000293905
- ExAC rs758161051
- Uncertain significance
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.29
- CADD 19.20
- PolyPhen-2 0.08
- SIFT 0.26
- ClinVar: Uncertain significance (Renal tubular dysgenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available