S69L (p.Ser69Leu) variant of NR3C1 (Glucocorticoid receptor)
S69L (p.Ser69Leu) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S69L (p.Ser69Leu) variant details
- p.Ser69Leu
- ESP rs371034256
- ExAC rs371034256
- TOPMed rs371034256
- gnomAD rs371034256
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.105