E29E (p.Glu29Glu) variant of TMC1 (Q8TDI8)
E29E (p.Glu29Glu) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E29E (p.Glu29Glu) variant details
- p.Glu29Glu
- rs770793343
- gnomAD 9-72694565-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 10.10
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available