T38A (p.Thr38Ala) variant of NR3C1 (Glucocorticoid receptor)
T38A (p.Thr38Ala) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- gnomAD rs1448288573
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.04
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.10
- 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 -0.0352