A43P (p.Ala43Pro) variant of NR3C1 (Glucocorticoid receptor)
A43P (p.Ala43Pro) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A43P (p.Ala43Pro) variant details
- p.Ala43Pro
- TOPMed rs1389278063
- gnomAD rs1389278063
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.14
- CADD 20.10
- PolyPhen-2 0.46
- SIFT 0.25
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.008