R74del (p.Arg74del) variant of TMC1 (Q8TDI8)
R74del (p.Arg74del) 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.
R74del (p.Arg74del) variant details
- gnomAD 9-72694687-AGAG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 18.60
- Population evidence available
- Structural context available
- Literature evidence available