Q75R (p.Gln75Arg) variant of NR3C1 (Glucocorticoid receptor)
Q75R (p.Gln75Arg) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q75R (p.Gln75Arg) variant details
- p.Gln75Arg
- TOPMed rs1840088122
- gnomAD rs1840088122
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.22
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0456