A749V (p.Ala749Val) variant of AR (Androgen receptor)
A749V (p.Ala749Val) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Disorder of sexual differentiation. The record also includes structural context.
A749V (p.Ala749Val) variant details
- p.Ala749Val
- cosmic curated COSV65964
- Ensembl rs2147530882
- UniProt VAR 009801
- Likely pathogenic
- Disorder of sexual differentiation
- Missense
- ClinVar: Likely pathogenic (Disorder of sexual differentiation)
- EBI: Variant of uncertain significance (in prostate cancer)
- UniProt: Uncertain significance (in prostate cancer)
- Structural context available