E11* (p.Glu11Ter) variant of TMC1 (Q8TDI8)
E11* (p.Glu11Ter) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- gnomAD 9-72688723-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.876
- CADD 47.00
- Population evidence available
- Structural context available
- Literature evidence available