K57T (p.Lys57Thr) variant of NR3C1 (Glucocorticoid receptor)
K57T (p.Lys57Thr) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K57T (p.Lys57Thr) variant details
- p.Lys57Thr
- TOPMed rs1286609634
- gnomAD rs1286609634
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.15
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.11
- 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 -0.218