R199L (p.Arg199Leu) variant of GNAS (P63092)
R199L (p.Arg199Leu) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohypoparathyroidism type I A. The record also includes structural context.
R199L (p.Arg199Leu) variant details
- p.Arg199Leu
- gnomAD rs1267396058
- Pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- ClinVar: Pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available