A871E (p.Ala871Glu) variant of AR (Androgen receptor)
A871E (p.Ala871Glu) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kennedy disease; Androgen resistance syndrome. The record also includes structural context.
A871E (p.Ala871Glu) variant details
- p.Ala871Glu
- ESP rs143040492
- ExAC rs143040492
- TOPMed rs143040492
- gnomAD rs143040492
- Pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available