S113F (p.Ser113Phe) variant of NR3C1 (Glucocorticoid receptor)
S113F (p.Ser113Phe) 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 0.43 / 1. The record also includes population frequency data.
S113F (p.Ser113Phe) variant details
- p.Ser113Phe
- rs764178904
- NCI-TCGA Cosmic COSV5154
- cosmic curated COSV51547
- ExAC rs764178904
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.27
- CADD 24.30
- PolyPhen-2 0.65
- SIFT 0.06
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)