K57E (p.Lys57Glu) variant of NR3C1 (Glucocorticoid receptor)
K57E (p.Lys57Glu) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K57E (p.Lys57Glu) variant details
- p.Lys57Glu
- ExAC rs749288379
- TOPMed rs749288379
- gnomAD rs749288379
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.218