M1A (p.Met1Ala) variant of GNAS (P63092)
M1A (p.Met1Ala) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
M1A (p.Met1Ala) variant details
- p.Met1Ala
- rs2516794817
- ClinGen CA2580098305
- ClinVar RCV002847558
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available