D691E (p.Asp691Glu) variant of AR (Androgen receptor)
D691E (p.Asp691Glu) 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.
D691E (p.Asp691Glu) variant details
- p.Asp691Glu
- ExAC rs764962411
- gnomAD rs764962411
- Pathogenic
- Kennedy disease; Androgen resistance syndrome
- Missense
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome)
- EBI: Benign (in PAIS)
- UniProt: Benign (in PAIS)
- Structural context available