E59E (p.Glu59Glu) variant of TMC1 (Q8TDI8)
E59E (p.Glu59Glu) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E59E (p.Glu59Glu) variant details
- p.Glu59Glu
- rs751950994
- gnomAD 9-72694655-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 6.78
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available