D28N (p.Asp28Asn) variant of NR3C1 (Glucocorticoid receptor)
D28N (p.Asp28Asn) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- Ensembl rs866665037
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score 0.0012