E11R (p.Glu11Arg) variant of TMC1 (Q8TDI8)
E11R (p.Glu11Arg) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E11R (p.Glu11Arg) variant details
- p.Glu11Arg
- gnomAD 9-72688721-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 28.10
- Population evidence available
- Structural context available
- Literature evidence available