S125R (p.Ser125Arg) variant of NR3C1 (Glucocorticoid receptor)
S125R (p.Ser125Arg) 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 0.39 / 1. The record also includes population frequency data.
S125R (p.Ser125Arg) variant details
- p.Ser125Arg
- ExAC rs768442683
- TOPMed rs768442683
- gnomAD rs768442683
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.39
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)