Q28* (p.Gln28Ter) variant of GNA11 (P29992)
Q28* (p.Gln28Ter) in GNA11 (P29992) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- TOPMed rs1479867877
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 38.00
- Population evidence available
- Structural context available