Y30H (p.Tyr30His) variant of NR3C1 (Glucocorticoid receptor)
Y30H (p.Tyr30His) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
Y30H (p.Tyr30His) variant details
- p.Tyr30His
- rs143711342
- ClinGen CA3487139
- ClinVar RCV000937948
- ClinVar RCV001152117
- Conflicting interpretations
- not provided; Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glucocorticoid resistance)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.102