A217V (p.Ala217Val) variant of AR (Androgen receptor)
A217V (p.Ala217Val) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Disorder of sexual differentiation. The record also includes variant effect predictions and structural context.
A217V (p.Ala217Val) variant details
- p.Ala217Val
- Ensembl rs2147317667
- Likely pathogenic
- Disorder of sexual differentiation
- Missense
- MetaLR 0.02
- MetaSVM -0.97
- SIFT 1.00
- ClinVar: Likely pathogenic (Disorder of sexual differentiation)
- UniProt: Likely pathogenic
- Structural context available