Q21R (p.Gln21Arg) variant of NR3C1 (Glucocorticoid receptor)
Q21R (p.Gln21Arg) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- ExAC rs746718874
- TOPMed rs746718874
- gnomAD rs746718874
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.13
- CADD 1.03
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0308