Y30N (p.Tyr30Asn) variant of NR3C1 (Glucocorticoid receptor)
Y30N (p.Tyr30Asn) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y30N (p.Tyr30Asn) variant details
- p.Tyr30Asn
- ESP rs143711342
- ExAC rs143711342
- TOPMed rs143711342
- gnomAD rs143711342
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.08
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.37
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.102