E2* (p.Glu2Ter) variant of TGFBR1 (TGF-beta receptor type-1)
E2* (p.Glu2Ter) in TGFBR1 (TGF-beta receptor type-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- TOPMed rs1448342568
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.81
- CADD 39.00
- Population evidence available
- Structural context available