R183C (p.Arg183Cys) variant of GNA11 (P29992)
R183C (p.Arg183Cys) in GNA11 (P29992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vascular malformation. The record also includes structural context.
R183C (p.Arg183Cys) variant details
- p.Arg183Cys
- Ensembl rs2145320931
- Pathogenic
- Vascular malformation
- Missense
- ClinVar: Pathogenic (Vascular malformation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available