E14E (p.Glu14Glu) variant of TMC1 (Q8TDI8)
E14E (p.Glu14Glu) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- gnomAD 9-72688734-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 7.87
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available