Q213R (p.Gln213Arg) variant of GNAS (P63092)
Q213R (p.Gln213Arg) in GNAS (P63092) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of McCune-Albright syndrome. The record also includes structural context.
Q213R (p.Gln213Arg) variant details
- p.Gln213Arg
- Ensembl rs2146272065
- Likely pathogenic
- McCune-Albright syndrome
- Missense
- ClinVar: Likely pathogenic (McCune-Albright syndrome)
- UniProt: Likely pathogenic
- Structural context available