S30* (p.Ser30Ter) variant of GABRA1 (P14867)
S30* (p.Ser30Ter) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S30* (p.Ser30Ter) variant details
- p.Ser30Ter
- gnomAD 5-161854172-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available