E13* (p.Glu13Ter) variant of GNAQ (P50148)
E13* (p.Glu13Ter) in GNAQ (P50148) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- Ensembl rs2118632468
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 36.00
- Population evidence available
- Structural context available