G108A (p.Gly108Ala) variant of NR3C1 (Glucocorticoid receptor)
G108A (p.Gly108Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and published literature.
G108A (p.Gly108Ala) variant details
- p.Gly108Ala
- rs1840071728
- ClinGen CA361866818
- ClinVar RCV004491289
- gnomAD rs1840071728
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.10
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)