A498V (p.Ala498Val) variant of LHCGR (P22888)
A498V (p.Ala498Val) in LHCGR (P22888) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Leydig cell agenesis. The record also includes structural context.
A498V (p.Ala498Val) variant details
- p.Ala498Val
- gnomAD rs1414739653
- Likely pathogenic
- Leydig cell agenesis
- Missense
- ClinVar: Likely pathogenic (Leydig cell agenesis)
- UniProt: Likely pathogenic
- Structural context available