T117A (p.Thr117Ala) variant of NR3C1 (Glucocorticoid receptor)
T117A (p.Thr117Ala) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
T117A (p.Thr117Ala) variant details
- p.Thr117Ala
- ExAC rs762597404
- TOPMed rs762597404
- gnomAD rs762597404
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.27
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)