Y30C (p.Tyr30Cys) variant of NR3C1 (Glucocorticoid receptor)
Y30C (p.Tyr30Cys) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glucocorticoid resistance. 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.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- ExAC rs755833578
- TOPMed rs755833578
- gnomAD rs755833578
- Uncertain significance
- not provided; Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.15
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.102