E25E (p.Glu25Glu) variant of TMC1 (Q8TDI8)
E25E (p.Glu25Glu) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
E25E (p.Glu25Glu) variant details
- p.Glu25Glu
- rs1437713868
- gnomAD 9-72694553-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 10.90
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available