E14K (p.Glu14Lys) variant of TMC1 (Q8TDI8)
E14K (p.Glu14Lys) in TMC1 (Q8TDI8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs2132183947
- gnomAD 9-72688726-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available