E13V (p.Glu13Val) variant of NR3C1 (Glucocorticoid receptor)
E13V (p.Glu13Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E13V (p.Glu13Val) variant details
- p.Glu13Val
- TOPMed rs1013873148
- gnomAD rs1013873148
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.27
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0179