I49I (p.Ile49Ile) variant of TMC1 (Q8TDI8)
I49I (p.Ile49Ile) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I49I (p.Ile49Ile) variant details
- p.Ile49Ile
- gnomAD 9-72694625-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 7.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available