E62D (p.Glu62Asp) variant of TMC1 (Q8TDI8)
E62D (p.Glu62Asp) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
E62D (p.Glu62Asp) variant details
- p.Glu62Asp
- TOPMed rs1826520056
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- ESM-1b 0.11
- AlphaMissense 0.13
- Structural context available