E12E (p.Glu12Glu) variant of TMC1 (Q8TDI8)
E12E (p.Glu12Glu) 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.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- gnomAD 9-72688728-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 9.66
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available