L112F (p.Leu112Phe) variant of NR3C1 (Glucocorticoid receptor)
L112F (p.Leu112Phe) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
L112F (p.Leu112Phe) variant details
- p.Leu112Phe
- rs542110718
- UniProt VAR 015629
- 1000Genomes rs542110718
- TOPMed rs542110718
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.05
- CADD 23.30
- PolyPhen-2 0.74
- SIFT 0.39
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Cited in: Five missense variants in the amino-terminal domain of the glucocorticoid receptor: no association with puerperal… (PMID 10898924)