T8A (p.Thr8Ala) variant of NR3C1 (Glucocorticoid receptor)
T8A (p.Thr8Ala) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- TOPMed rs1244197690
- gnomAD rs1244197690
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.16
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.09
- 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 -0.409