A49T (p.Ala49Thr) variant of NR3C1 (Glucocorticoid receptor)
A49T (p.Ala49Thr) 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.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- TOPMed rs1840107606
- gnomAD rs1840107606
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.06
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0771