E15* (p.Glu15Ter) variant of GNAS (P63092)
E15* (p.Glu15Ter) in GNAS (P63092) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- cosmic curated COSV55681
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 19.50
- Population evidence available
- Structural context available