E70G (p.Glu70Gly) variant of TMC1 (Q8TDI8)
E70G (p.Glu70Gly) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E70G (p.Glu70Gly) variant details
- p.Glu70Gly
- gnomAD 9-72694684-AAGAG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 27.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available