E13* (p.Glu13Ter) variant of TSC2 (Tuberin)
E13* (p.Glu13Ter) in TSC2 (Tuberin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- rs948409198
- gnomAD 16-2048273-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available