S21* (p.Ser21Ter) variant of TMC1 (Q8TDI8)
S21* (p.Ser21Ter) 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.
S21* (p.Ser21Ter) variant details
- p.Ser21Ter
- gnomAD 9-72688754-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available