Y37* (p.Tyr37Ter) variant of GNAS (P63092)
Y37* (p.Tyr37Ter) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y37* (p.Tyr37Ter) variant details
- p.Tyr37Ter
- rs2145469835
- gnomAD 20-58840157-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available