E34* (p.Glu34Ter) variant of GABRA1 (P14867)
E34* (p.Glu34Ter) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E34* (p.Glu34Ter) variant details
- p.Glu34Ter
- rs2113292749
- gnomAD 5-161850665-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available