R59P (p.Arg59Pro) variant of NR3C1 (Glucocorticoid receptor)
R59P (p.Arg59Pro) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R59P (p.Arg59Pro) variant details
- p.Arg59Pro
- TOPMed rs1008340994
- gnomAD rs1008340994
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.10
- CADD 14.00
- PolyPhen-2 0.17
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0872