p.Arg74dup variant of TMC1 (Q8TDI8)
p.Arg74dup in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg74dup variant details
- gnomAD 9-72694687-A-AGAG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 18.00
- Population evidence available
- Structural context available
- Literature evidence available