E10* (p.Glu10Ter) variant of GNAS (P63092)
E10* (p.Glu10Ter) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E10* (p.Glu10Ter) variant details
- p.Glu10Ter
- cosmic curated COSV99670
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 19.90
- Population evidence available
- Structural context available