N100S (p.Asn100Ser) variant of NR3C1 (Glucocorticoid receptor)
N100S (p.Asn100Ser) 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 0.15 / 1. The record also includes population frequency data and published literature.
N100S (p.Asn100Ser) variant details
- p.Asn100Ser
- rs1412792500
- ClinGen CA361866875
- ClinVar RCV002868227
- TOPMed rs1412792500
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.04
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)