I126F (p.Ile126Phe) variant of NR3C1 (Glucocorticoid receptor)
I126F (p.Ile126Phe) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
I126F (p.Ile126Phe) variant details
- p.Ile126Phe
- ExAC rs776690628
- TOPMed rs776690628
- gnomAD rs776690628
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.34
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)