T8S (p.Thr8Ser) variant of NR3C1 (Glucocorticoid receptor)
T8S (p.Thr8Ser) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- ExAC rs773373601
- gnomAD rs773373601
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.19
- CADD 2.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.409