Y89C (p.Tyr89Cys) variant of NR3C1 (Glucocorticoid receptor)
Y89C (p.Tyr89Cys) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glucocorticoid resistance; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
Y89C (p.Tyr89Cys) variant details
- p.Tyr89Cys
- rs200468789
- ClinGen CA3487103
- ClinVar RCV003731335
- ClinVar RCV004756542
- Conflicting interpretations
- Glucocorticoid resistance; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.34
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glucocorticoid resistance; Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)