E27E (p.Glu27Glu) variant of TMC1 (Q8TDI8)
E27E (p.Glu27Glu) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- rs1272242031
- gnomAD 9-72694559-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 8.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available