E12K (p.Glu12Lys) variant of TMC1 (Q8TDI8)
E12K (p.Glu12Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- TOPMed rs1256139209
- gnomAD rs1256139209
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- Structural context available