P116L (p.Pro116Leu) variant of GNAS (P63092)
P116L (p.Pro116Leu) in GNAS (P63092) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of GNAS-related disorder; not provided; Pseudohypoparathyroidism. The record also includes structural context.
P116L (p.Pro116Leu) variant details
- p.Pro116Leu
- cosmic curated COSV10500
- Pathogenic/Likely pathogenic
- GNAS-related disorder; not provided; Pseudohypoparathyroidism
- Missense
- ClinVar: Pathogenic/Likely pathogenic (GNAS-related disorder; not provided; Pseudohypoparathyroidism)
- UniProt: Likely pathogenic
- Structural context available