R23T (p.Arg23Thr) variant of NR3C1 (Glucocorticoid receptor)
R23T (p.Arg23Thr) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R23T (p.Arg23Thr) variant details
- p.Arg23Thr
- 1000Genomes rs6190
- ESP rs6190
- ExAC rs6190
- TOPMed rs6190
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.02
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.555