D25G (p.Asp25Gly) variant of NR3C1 (Glucocorticoid receptor)
D25G (p.Asp25Gly) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- rs1047437679
- Ensembl rs1047437679
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.08
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.129