A43T (p.Ala43Thr) variant of NR3C1 (Glucocorticoid receptor)
A43T (p.Ala43Thr) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- TOPMed rs1389278063
- gnomAD rs1389278063
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.04
- CADD 20.90
- PolyPhen-2 0.12
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.008