E2Q (p.Glu2Gln) variant of AR (Androgen receptor)
E2Q (p.Glu2Gln) in AR (Androgen receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAIS. The record also includes structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- Ensembl rs104894742
- Pathogenic
- in PAIS
- Missense
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available