E682G (p.Glu682Gly) variant of AR (Androgen receptor)
E682G (p.Glu682Gly) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Androgen resistance syndrome. The record also includes structural context.
E682G (p.Glu682Gly) variant details
- p.Glu682Gly
- Ensembl rs2147524774
- Likely pathogenic
- Androgen resistance syndrome
- Missense
- ClinVar: Likely pathogenic (Androgen resistance syndrome)
- UniProt: Likely pathogenic (in AIS)
- Structural context available