S79F (p.Ser79Phe) variant of NR3C1 (Glucocorticoid receptor)
S79F (p.Ser79Phe) 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 0.57 / 1. The record also includes population frequency data and structural context.
S79F (p.Ser79Phe) variant details
- p.Ser79Phe
- NCI-TCGA Cosmic COSV9919
- cosmic curated COSV99196
- Ensembl rs1840086854
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.39
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available