L112R (p.Leu112Arg) variant of NR3C1 (Glucocorticoid receptor)
L112R (p.Leu112Arg) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
L112R (p.Leu112Arg) variant details
- p.Leu112Arg
- gnomAD rs901577676
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.21
- CADD 27.00
- PolyPhen-2 0.86
- SIFT 0.04
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance (in dbSNP:rs542110718)
- UniProt: Uncertain significance (in dbSNP:rs542110718)
- Most common in the East Asian population (allele frequency 2.5e-05)