S44P (p.Ser44Pro) variant of NR3C1 (Glucocorticoid receptor)
S44P (p.Ser44Pro) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S44P (p.Ser44Pro) variant details
- p.Ser44Pro
- ESP rs148967394
- TOPMed rs148967394
- gnomAD rs148967394
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.08
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.37