p.Pro58delinsHisSerThr variant of TMC1 (Q8TDI8)
p.Pro58delinsHisSerThr in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro58delinsHisSerThr variant details
- gnomAD 9-72694650-C-CATA
- Protein Altering
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 26.40
- Population evidence available
- Structural context available
- Literature evidence available