S56F (p.Ser56Phe) variant of NR3C1 (Glucocorticoid receptor)
S56F (p.Ser56Phe) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S56F (p.Ser56Phe) variant details
- p.Ser56Phe
- TOPMed rs1840103303
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.21
- CADD 26.00
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0491