S12* (p.Ser12Ter) variant of GABRG2 (P18507)
S12* (p.Ser12Ter) in GABRG2 (P18507) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S12* (p.Ser12Ter) variant details
- p.Ser12Ter
- rs988374313
- gnomAD 5-162036876-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 33.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available