Q58H (p.Gln58His) variant of NR3C1 (Glucocorticoid receptor)
Q58H (p.Gln58His) 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.
Q58H (p.Gln58His) variant details
- p.Gln58His
- ExAC rs752462910
- gnomAD rs752462910
- cosmic curated COSV10956
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.23
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.405