L84F (p.Leu84Phe) variant of NR3C1 (Glucocorticoid receptor)
L84F (p.Leu84Phe) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
L84F (p.Leu84Phe) variant details
- p.Leu84Phe
- ExAC rs770476389
- TOPMed rs770476389
- gnomAD rs770476389
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.31
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)