E12* (p.Glu12Ter) variant of TMC1 (Q8TDI8)
E12* (p.Glu12Ter) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- gnomAD 9-72688726-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available