R59Q (p.Arg59Gln) variant of NR3C1 (Glucocorticoid receptor)
R59Q (p.Arg59Gln) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- rs1008340994
- NCI-TCGA Cosmic COSV5154
- cosmic curated COSV51542
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0717
- REVEL 0.03
- CADD 7.29
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0872