S125G (p.Ser125Gly) variant of NR3C1 (Glucocorticoid receptor)
S125G (p.Ser125Gly) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
S125G (p.Ser125Gly) variant details
- p.Ser125Gly
- ExAC rs768442683
- TOPMed rs768442683
- gnomAD rs768442683
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.34
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)