F29L (p.Phe29Leu) variant of NR3C1 (Glucocorticoid receptor)
F29L (p.Phe29Leu) 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 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F29L (p.Phe29Leu) variant details
- p.Phe29Leu
- rs148102613
- UniProt VAR 015628
- ESP rs148102613
- ExAC rs148102613
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.01
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance (in dbSNP:rs148102613)
- UniProt: Uncertain significance (in dbSNP:rs148102613)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0718
- Cited in: Five missense variants in the amino-terminal domain of the glucocorticoid receptor: no association with puerperal… (PMID 10898924)