E116K (p.Glu116Lys) variant of NR3C1 (Glucocorticoid receptor)
E116K (p.Glu116Lys) 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.
E116K (p.Glu116Lys) variant details
- p.Glu116Lys
- ExAC rs202019957
- TOPMed rs202019957
- gnomAD rs202019957
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.24
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)