N128D (p.Asn128Asp) variant of NR3C1 (Glucocorticoid receptor)
N128D (p.Asn128Asp) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
N128D (p.Asn128Asp) variant details
- p.Asn128Asp
- TOPMed rs1473567916
- gnomAD rs1473567916
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.13
- CADD 21.90
- PolyPhen-2 0.13
- SIFT 0.93
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)