E26G (p.Glu26Gly) variant of TMC1 (Q8TDI8)
E26G (p.Glu26Gly) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- gnomAD 9-72694554-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available