S56P (p.Ser56Pro) variant of NR3C1 (Glucocorticoid receptor)
S56P (p.Ser56Pro) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S56P (p.Ser56Pro) variant details
- p.Ser56Pro
- ExAC rs770422985
- gnomAD rs770422985
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.09
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0491