E14del (p.Glu14del) variant of TMC1 (Q8TDI8)
E14del (p.Glu14del) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E14del (p.Glu14del) variant details
- rs1457328522
- gnomAD 9-72688729-AAAG-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available