S3* (p.Ser3Ter) variant of GABRG2 (P18507)
S3* (p.Ser3Ter) in GABRG2 (P18507) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- gnomAD 5-162068007-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available