I49M (p.Ile49Met) variant of TMC1 (Q8TDI8)
I49M (p.Ile49Met) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
I49M (p.Ile49Met) variant details
- p.Ile49Met
- gnomAD 9-72694616-A-AGAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 27.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available