D64E (p.Asp64Glu) variant of NR3C1 (Glucocorticoid receptor)
D64E (p.Asp64Glu) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D64E (p.Asp64Glu) variant details
- p.Asp64Glu
- rs924576585
- ClinGen CA129264896
- ClinVar RCV003738722
- ClinVar RCV005037020
- Uncertain significance
- Inborn genetic diseases; not provided; Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.37
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.161
- 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)