E51E (p.Glu51Glu) variant of TMC1 (Q8TDI8)
E51E (p.Glu51Glu) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E51E (p.Glu51Glu) variant details
- p.Glu51Glu
- rs1259193399
- gnomAD 9-72694631-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 7.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available