F65L (p.Phe65Leu) variant of NR3C1 (Glucocorticoid receptor)
F65L (p.Phe65Leu) 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.
F65L (p.Phe65Leu) variant details
- p.Phe65Leu
- 1000Genomes rs6192
- ESP rs6192
- ExAC rs6192
- TOPMed rs6192
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.09
- CADD 22.50
- EBI: Benign (in dbSNP:rs6192)
- UniProt: Benign (in dbSNP:rs6192)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0905