E11E (p.Glu11Glu) variant of TMC1 (Q8TDI8)
E11E (p.Glu11Glu) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E11E (p.Glu11Glu) variant details
- p.Glu11Glu
- gnomAD 9-72688725-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 7.58
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available