N72S (p.Asn72Ser) variant of NR3C1 (Glucocorticoid receptor)
N72S (p.Asn72Ser) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N72S (p.Asn72Ser) variant details
- p.Asn72Ser
- gnomAD rs1248335530
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score 0.0109